EDS
MCID: EHL001
MIFTS: 57

Ehlers-Danlos Syndrome (EDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 12 73 43 58 36 29 54 6 42 44 15 70 32
Eds 20 43 58
Elastic Skin 12 54
Ehlers-Danlos Syndromes 20
Syndrome, Ehlers-Danlos 39
Ehlers Danlos Syndrome 20
Ehlers Danlos Disease 43
Cutis Hyperelastica 12
Ed Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
ehlers-danlos syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:13359
KEGG 36 H00802
ICD9CM 34 756.83
MeSH 44 D004535
NCIt 50 C34568
SNOMED-CT 67 268352002
ICD10 32 Q79.6
MESH via Orphanet 45 D004535
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 71 C0013720
Orphanet 58 ORPHA98249
UMLS 70 C0013720

Summaries for Ehlers-Danlos Syndrome

MedlinePlus Genetics : 43 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.

MalaCards based summary : Ehlers-Danlos Syndrome, also known as eds, is related to ehlers-danlos syndrome, vascular type and ehlers-danlos syndrome, classic type, 2, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Celiprolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and uterus, and related phenotypes are growth/size/body region and cardiovascular system

Disease Ontology : 12 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

GARD : 20 Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification, from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Please visit the following link from the Ehlers-Danlos Society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/

MedlinePlus : 42 Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include Loose joints Fragile, small blood vessels Abnormal scar formation and wound healing Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

KEGG : 36 Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).

Wikipedia : 73 Ehlers-Danlos syndromes are a group of rare genetic connective-tissue disorders. Symptoms may include... more...

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 744, show less)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, vascular type 33.7 COL5A1 COL3A1
2 ehlers-danlos syndrome, classic type, 2 33.6 COL5A2 COL5A1 COL3A1
3 ehlers-danlos syndrome, hypermobility type 33.6 TNXB SLC39A13 COL3A1
4 kyphoscoliotic ehlers-danlos syndrome 33.6 PLOD1 FKBP14
5 ehlers-danlos syndrome, classic-like 33.5 TNXB LOC106780803 AEBP1
6 ehlers-danlos syndrome, arthrochalasia type, 2 33.5 COL1A2 COL1A1
7 ehlers-danlos syndrome, cardiac valvular type 33.5 COL1A2 COL1A1
8 ehlers-danlos syndrome, periodontal type, 1 33.5 C1S C1R
9 arthrochalasia ehlers-danlos syndrome 33.4 COL1A2 COL1A1
10 ehlers-danlos syndrome, spondylodysplastic type, 2 33.4 B4GALT7 B3GALT6
11 ehlers-danlos syndrome, musculocontractural type, 2 33.3 DSE CHST14
12 musculocontractural ehlers-danlos syndrome 33.3 DSE CHST14
13 periodontal ehlers-danlos syndrome 33.3 C1S C1R
14 spondylodysplastic ehlers-danlos syndrome 33.3 B4GALT7 B3GALT6
15 ehlers-danlos syndrome, periodontal type, 2 33.2 C1S C1R
16 classic ehlers-danlos syndrome 33.1 TNXB COL5A2 COL5A1 COL1A2 COL1A1
17 hypermobile ehlers-danlos syndrome 33.0 TNXB PLOD1 FKBP14 COL5A2 COL5A1 COL1A1
18 ehlers-danlos syndrome, classic type, 1 33.0 DSE COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
19 aortic aneurysm, familial thoracic 1 32.5 FLNA COL5A1 COL3A1
20 b4galt7-related spondylodysplastic ehlers-danlos syndrome 32.4 B4GALT7 B3GALT6
21 familial thoracic aortic aneurysm and aortic dissection 32.3 COL5A2 COL5A1 COL3A1 COL1A1
22 orthostatic intolerance 32.1 PLOD1 FLNA COL5A2 COL5A1 COL3A1 COL1A2
23 loeys-dietz syndrome 32.0 PLOD1 FLNA FKBP14 COL5A2 COL5A1 COL3A1
24 connective tissue disease 31.8 TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
25 aneurysm 31.8 PLOD1 FLNA COL3A1
26 hypermobility syndrome 31.7 TNXB COL5A2 COL5A1 COL3A1 COL1A1 C1R
27 aortic dissection 31.4 COL5A2 COL5A1 COL3A1 COL1A1
28 marfan syndrome 31.2 FLNA COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
29 scoliosis 31.2 PLOD1 FLNA FKBP14 COL5A1 COL1A2 COL1A1
30 pelvic organ prolapse 31.0 TNXB COL3A1 COL1A2 COL1A1 ADAMTS2
31 ehlers-danlos/osteogenesis imperfecta syndrome 31.0 COL1A2 COL1A1
32 congenital contractures 31.0 PLOD1 CHST14
33 brittle bone disorder 30.8 TNXB PLOD3 PLOD1 COL5A2 COL5A1 COL3A1
34 gingival recession 30.6 C1S C1R
35 col1a1/2 osteogenesis imperfecta 30.6 COL1A2 COL1A1
36 progeroid syndrome 30.6 COL1A1 B4GALT7
37 hypomelanosis of ito 30.6 PLOD1 COL5A1
38 quadricuspid aortic valve 30.6 TNXB LOC106780803
39 osteogenesis imperfecta, type iii 30.4 COL5A2 COL1A2 COL1A1 ADAMTS2
40 tricuspid valve prolapse 30.4 FLNA COL3A1 CHST14
41 osteogenesis imperfecta, type ii 30.3 COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
42 aortic valve disease 1 30.2 FLNA COL5A2 COL5A1 COL3A1
43 frontometaphyseal dysplasia 1 30.2 FLNA C1R
44 bethlem myopathy 1 30.0 PLOD1 FKBP14 COL3A1 CHST14
45 collagen disease 29.5 TNXB SLC39A13 PLOD1 FKBP14 DSE COL5A2
46 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.0
47 ehlers-danlos syndrome, dermatosparaxis type 12.0
48 ehlers-danlos syndrome, spondylodysplastic type, 3 12.0
49 ehlers-danlos syndrome, spondylodysplastic type, 1 12.0
50 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.0
51 ehlers-danlos syndrome, arthrochalasia type, 1 11.9
52 ehlers-danlos syndrome, musculocontractural type, 1 11.9
53 ehlers-danlos syndrome, classic-like, 2 11.9
54 brittle cornea syndrome 1 11.8
55 polymicrogyria with or without vascular-type ehlers-danlos syndrome 11.8
56 occipital horn syndrome 11.7
57 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 11.7
58 bethlem myopathy 2 11.7
59 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 11.7
60 brittle cornea syndrome 2 11.6
61 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 11.6
62 autosomal recessive type iv ehlers-danlos syndrome 11.6
63 cardiac valvular dysplasia, x-linked 11.5
64 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.5
65 x-linked ehlers-danlos syndrome 11.4
66 ehlers-danlos syndrome, autosomal dominant, type unspecified 11.4
67 ehlers-danlos syndrome, beasley-cohen type 11.4
68 fkbp14 kyphoscoliotic ehlers-danlos syndrome 11.3
69 postural orthostatic tachycardia syndrome 11.2
70 joint laxity, familial 11.2
71 pneumothorax, primary spontaneous 11.2
72 periventricular nodular heterotopia 11.2
73 autosomal recessive cutis laxa type i 11.2
74 autonomic nervous system disease 11.2
75 flna-related periventricular nodular heterotopia 11.2
76 cutis laxa, autosomal dominant 1 11.2
77 cutis laxa, autosomal recessive, type ia 11.2
78 mounier-kuhn syndrome 11.2
79 loeys-dietz syndrome 2 11.2
80 cutis laxa, autosomal recessive, type ic 11.2
81 hereditary alpha tryptasemia syndrome 11.2
82 auditory neuropathy spectrum disorder 11.2
83 idiopathic hypersomnia 11.0
84 narcolepsy 10.9
85 hypotonia 10.8
86 chronic pain 10.8
87 aortic aneurysm 10.8
88 pneumothorax 10.7
89 periodontitis 10.7
90 brittle cornea syndrome 10.6
91 fibromyalgia 10.6
92 clubfoot 10.6
93 cutis laxa 10.6
94 myopathy 10.6
95 varicose veins 10.6
96 inguinal hernia 10.5
97 neuropathy 10.5
98 aortic aneurysm, familial abdominal, 1 10.5
99 osteogenesis imperfecta, type i 10.5
100 autosomal recessive disease 10.5
101 intestinal perforation 10.5
102 constipation 10.5
103 dysautonomia 10.5
104 myopia 10.5
105 vascular disease 10.5
106 lipoid congenital adrenal hyperplasia 10.5
107 keratoconus 10.5
108 polyneuropathy 10.5
109 peritonitis 10.5
110 autonomic dysfunction 10.5
111 headache 10.5
112 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
113 lipoblastoma 10.4 COL3A1 COL1A2
114 cerebrovascular disease 10.4
115 fibrogenesis imperfecta ossium 10.4 COL1A2 COL1A1
116 plantar fascial fibromatosis 10.4 COL3A1 COL1A1
117 scleroderma, familial progressive 10.4 COL1A2 COL1A1
118 epicondylitis 10.4 COL5A1 COL1A1
119 hypertelorism 10.4
120 retinal detachment 10.4
121 acrogeria, gottron type 10.4
122 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.4
123 umbilical hernia 10.4
124 heart septal defect 10.4
125 compartment syndrome 10.4
126 carotid artery dissection 10.4
127 irritable bowel syndrome 10.4
128 back pain 10.4
129 blepharochalasis 10.4 FKBP14 ADAMTS2
130 tibialis tendinitis 10.4 TNXB COL5A2 ADAMTS2
131 diffuse scleroderma 10.4 COL1A2 COL1A1
132 vesicoureteral reflux 8 10.4 TNXB LOC106780803
133 syndromic x-linked intellectual disability cabezas type 10.4 COL1A2 COL1A1
134 mitral valve insufficiency 10.4
135 muscular atrophy 10.4
136 chronic fatigue syndrome 10.4
137 vasculitis 10.4
138 neurofibromatosis 10.4
139 cerebral aneurysms 10.4
140 spondyloepimetaphyseal dysplasia with joint laxity 10.4 COL1A2 B3GALT6
141 osteogenesis imperfecta, type v 10.4 COL1A2 COL1A1
142 immunodeficiency due to a classical component pathway complement deficiency 10.4 C1S C1R
143 aortic aneurysm, familial thoracic 2 10.3 FLNA COL3A1
144 bladder diverticulum 10.3
145 marfanoid hypermobility syndrome 10.3
146 osteoporosis 10.3
147 periventricular nodular heterotopia 1 10.3
148 bone mineral density quantitative trait locus 8 10.3
149 bone mineral density quantitative trait locus 15 10.3
150 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
151 atrial heart septal defect 10.3
152 peripheral nervous system disease 10.3
153 polymicrogyria 10.3
154 overgrowth syndrome 10.3
155 congenital intrinsic factor deficiency 10.3 C1S C1R
156 caspase 8 deficiency 10.3 PLOD1 FKBP14 COL5A2 COL5A1
157 desbuquois dysplasia 10.3 CHST14 B4GALT7 B3GALT6
158 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3 CHST14 B4GALT7 B3GALT6
159 acroosteolysis 10.3
160 cleft palate, isolated 10.3
161 coronary artery dissection, spontaneous 10.3
162 attention deficit-hyperactivity disorder 10.3
163 pectus excavatum 10.3
164 teeth, supernumerary 10.3
165 arterial tortuosity syndrome 10.3
166 ataxia and polyneuropathy, adult-onset 10.3
167 alacrima, achalasia, and mental retardation syndrome 10.3
168 helix syndrome 10.3
169 thrombosis 10.3
170 endocarditis 10.3
171 von willebrand's disease 10.3
172 splenic artery aneurysm 10.3
173 personality disorder 10.3
174 ventricular septal defect 10.3
175 hemopneumothorax 10.3
176 subclavian artery aneurysm 10.3
177 gastritis 10.3
178 aortic valve insufficiency 10.3
179 diverticulitis 10.3
180 refractive error 10.3
181 mast cell activation syndrome 10.3
182 pure autonomic failure 10.3
183 dysphagia 10.3
184 seizure disorder 10.3
185 temporomandibular joint anomaly 10.3
186 hyperostosis 10.3 FLNA COL1A2 COL1A1
187 larsen-like syndrome 10.2 COL5A2 COL3A1 COL1A2 COL1A1 B4GALT7
188 boomerang dysplasia 10.2 FLNA B4GALT7
189 lateral sclerosis 10.2
190 atrial standstill 1 10.2
191 gastroesophageal reflux 10.2
192 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
193 multiple sclerosis 10.2
194 elastosis perforans serpiginosa 10.2
195 fibromuscular dysplasia 10.2
196 migraine with or without aura 1 10.2
197 strabismus 10.2
198 autism 10.2
199 celiac disease 1 10.2
200 cryptorchidism, unilateral or bilateral 10.2
201 pseudoxanthoma elasticum 10.2
202 menkes disease 10.2
203 kearns-sayre syndrome 10.2
204 angioid streaks 10.2
205 patent ductus arteriosus 1 10.2
206 anxiety 10.2
207 autism spectrum disorder 10.2
208 pain agnosia 10.2
209 ptosis 10.2
210 cardiac arrest 10.2
211 intestinal pseudo-obstruction 10.2
212 megacolon 10.2
213 cardiac tamponade 10.2
214 hereditary hemorrhagic telangiectasia 10.2
215 telangiectasis 10.2
216 epilepsy 10.2
217 hemangioma 10.2
218 endometriosis 10.2
219 acute pancreatitis 10.2
220 ischemia 10.2
221 mood disorder 10.2
222 placenta disease 10.2
223 osteoarthritis 10.2
224 arthritis 10.2
225 mechanical strabismus 10.2
226 exophthalmos 10.2
227 cervical incompetence 10.2
228 muscular dystrophy 10.2
229 chiari malformation 10.2
230 raynaud phenomenon 10.2
231 nodular neuronal heterotopia 10.2
232 congenital amyoplasia 10.2
233 bruck syndrome 10.2 PLOD3 PLOD1 COL1A2 COL1A1
234 complement component 3 deficiency 10.2 C1S C1R
235 familial vesicoureteral reflux 10.2 TNXB LOC106780803
236 osteogenesis imperfecta, type vii 10.2 COL1A2 COL1A1
237 stickler syndrome 10.1 PLOD3 COL5A2 COL5A1 COL1A2 COL1A1
238 erythermalgia, primary 10.1
239 hernia, hiatus 10.1
240 melkersson-rosenthal syndrome 10.1
241 prader-willi syndrome 10.1
242 dowling-degos disease 1 10.1
243 spondylolisthesis 10.1
244 down syndrome 10.1
245 volvulus of midgut 10.1
246 hydrocephalus, congenital, 1 10.1
247 ullrich congenital muscular dystrophy 1 10.1
248 branchiootic syndrome 1 10.1
249 astigmatism 10.1
250 ventricular fibrillation, paroxysmal familial, 1 10.1
251 anorexia nervosa 10.1
252 bone mineral density quantitative trait locus 3 10.1
253 myocardial infarction 10.1
254 preterm premature rupture of the membranes 10.1
255 intraocular pressure quantitative trait locus 10.1
256 leptin deficiency or dysfunction 10.1
257 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
258 tooth agenesis 10.1
259 distal arthrogryposis 10.1
260 sleep apnea 10.1
261 aphasia 10.1
262 spondyloepimetaphyseal dysplasia 10.1
263 superior semicircular canal dehiscence 10.1
264 dermatomyositis 10.1
265 microcephaly 10.1
266 obsessive-compulsive personality disorder 10.1
267 intracranial aneurysm 10.1
268 respiratory failure 10.1
269 arteriovenous malformation 10.1
270 pyelonephritis 10.1
271 scleral staphyloma 10.1
272 gastroparesis 10.1
273 esophagitis 10.1
274 otosclerosis 10.1
275 spinal muscular atrophy 10.1
276 quadriplegia 10.1
277 acute cystitis 10.1
278 frozen shoulder 10.1
279 renal tubular acidosis 10.1
280 pulmonary valve insufficiency 10.1
281 avoidant personality disorder 10.1
282 keratosis 10.1
283 hypogonadism 10.1
284 cerebral palsy 10.1
285 factor xiii deficiency 10.1
286 focal epilepsy 10.1
287 bursitis 10.1
288 complex regional pain syndrome 10.1
289 purpura 10.1
290 plexopathy 10.1
291 skin disease 10.1
292 heart valve disease 10.1
293 tricuspid valve insufficiency 10.1
294 pancreatitis 10.1
295 ovarian cyst 10.1
296 aortic disease 10.1
297 sleep disorder 10.1
298 paraplegia 10.1
299 acne 10.1
300 dentin dysplasia 10.1
301 myocarditis 10.1
302 cataract 10.1
303 appendicitis 10.1
304 ileus 10.1
305 cleft lip 10.1
306 intracranial hypertension 10.1
307 alopecia 10.1
308 developmental coordination disorder 10.1
309 x-linked otopalatodigital spectrum disorders 10.1
310 weber syndrome 10.1
311 developmental dyspraxia 10.1
312 head injury 10.1
313 syncope 10.1
314 cleft lip/palate 10.1
315 amyotrophic lateral sclerosis 1 10.1
316 larsen syndrome 10.1 FLNA DSE CHST14 B4GALT7 B3GALT6
317 neurodevelopmental, jaw, eye, and digital syndrome 10.0
318 brown's tendon sheath syndrome 10.0
319 ocular motility disease 10.0
320 dystonia 10.0
321 tarlov cysts 10.0
322 brain injury 10.0
323 larsen-like syndrome b3gat3 type 10.0 SLC39A13 DSE CHST14 B4GALT7 B3GALT6 AEBP1
324 temtamy preaxial brachydactyly syndrome 10.0 CHST14 B3GALT6
325 syringoma 10.0
326 discoid lupus erythematosus 10.0
327 spondyloarthropathy 1 10.0
328 arteries, anomalies of 10.0
329 blood group, i system 10.0
330 epidermolytic hyperkeratosis 10.0
331 progressive familial heart block, type ia 10.0
332 caffey disease 10.0
333 cardiac conduction defect 10.0
334 carpal tunnel syndrome 10.0
335 chiari malformation type i 10.0
336 cleidocranial dysplasia 10.0
337 dentatorubral-pallidoluysian atrophy 10.0
338 lateral meningocele syndrome 10.0
339 aortic aneurysm, familial thoracic 4 10.0
340 factor viii deficiency 10.0
341 gilles de la tourette syndrome 10.0
342 hair whorl 10.0
343 hand skill, relative 10.0
344 diaphragmatic hernia, congenital 10.0
345 hirschsprung disease 1 10.0
346 beukes hip dysplasia 10.0
347 palmoplantar keratoderma, epidermolytic 10.0
348 ige responsiveness, atopic 10.0
349 klippel-trenaunay-weber syndrome 10.0
350 leiomyoma, uterine 10.0
351 lipomatosis, multiple 10.0
352 mesothelioma, malignant 10.0
353 muir-torre syndrome 10.0
354 nail-patella syndrome 10.0
355 neuropathy, hereditary, with liability to pressure palsies 10.0
356 enchondromatosis, multiple, ollier type 10.0
357 multicentric carpotarsal osteolysis syndrome 10.0
358 otitis media 10.0
359 pancreas, annular 10.0
360 periodontitis, aggressive, 1 10.0
361 hutchinson-gilford progeria syndrome 10.0
362 proteus syndrome 10.0
363 pulmonary hypertension, primary, 1 10.0
364 rheumatoid arthritis 10.0
365 telangiectasia, hereditary hemorrhagic, type 1 10.0
366 telecanthus 10.0
367 testicular torsion 10.0
368 tetralogy of fallot 10.0
369 tuberous sclerosis 1 10.0
370 von willebrand disease, type 1 10.0
371 chiari malformation type ii 10.0
372 ascites, chylous 10.0
373 cutis laxa, autosomal recessive, type iia 10.0
374 cystic fibrosis 10.0
375 dandy-walker syndrome 10.0
376 duodenal atresia 10.0
377 geroderma osteodysplasticum 10.0
378 pulmonary venoocclusive disease 2, autosomal recessive 10.0
379 mowat-wilson syndrome 10.0
380 marden-walker syndrome 10.0
381 familial mediterranean fever 10.0
382 myasthenia gravis 10.0
383 3-methylglutaconic aciduria, type iii 10.0
384 osteoporosis, juvenile 10.0
385 periodontitis, chronic 10.0
386 phenylketonuria 10.0
387 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 10.0
388 sudden infant death syndrome 10.0
389 tracheobronchomegaly 10.0
390 xanthinuria, type i 10.0
391 body mass index quantitative trait locus 11 10.0
392 otopalatodigital syndrome, type ii 10.0
393 hemophilia a 10.0
394 hemophilia b 10.0
395 melnick-needles syndrome 10.0
396 simpson-golabi-behmel syndrome, type 1 10.0
397 tooth size 10.0
398 dermatitis herpetiformis, familial 10.0
399 yemenite deaf-blind hypopigmentation syndrome 10.0
400 body mass index quantitative trait locus 9 10.0
401 macular degeneration, age-related, 1 10.0
402 body mass index quantitative trait locus 8 10.0
403 progressive familial heart block, type ib 10.0
404 body mass index quantitative trait locus 1 10.0
405 pulmonary disease, chronic obstructive 10.0
406 body mass index quantitative trait locus 4 10.0
407 body mass index quantitative trait locus 10 10.0
408 body mass index quantitative trait locus 7 10.0
409 major depressive disorder 10.0
410 loeys-dietz syndrome 1 10.0
411 major affective disorder 8 10.0
412 body mass index quantitative trait locus 12 10.0
413 major affective disorder 9 10.0
414 factor xi deficiency 10.0
415 body mass index quantitative trait locus 14 10.0
416 leukemia, acute lymphoblastic 10.0
417 muscular dystrophy, congenital, lmna-related 10.0
418 alpha-1-antitrypsin deficiency 10.0
419 barrett esophagus 10.0
420 body mass index quantitative trait locus 18 10.0
421 hyperprolactinemia 10.0
422 cutis laxa, autosomal dominant 3 10.0
423 chorea, childhood-onset, with psychomotor retardation 10.0
424 body mass index quantitative trait locus 19 10.0
425 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
426 peripheral vascular disease 10.0
427 tendinitis 10.0
428 angiosarcoma 10.0
429 brugada syndrome 10.0
430 exanthem 10.0
431 rheumatic heart disease 10.0
432 limb ischemia 10.0
433 spastic ataxia 10.0
434 infective endocarditis 10.0
435 sexual disorder 10.0
436 colitis 10.0
437 ischemic colitis 10.0
438 xanthinuria 10.0
439 sclerocornea 10.0
440 cornea plana 10.0
441 tracheomalacia 10.0
442 anal fistula 10.0
443 ectopic pregnancy 10.0
444 hyperekplexia 10.0
445 dextro-looped transposition of the great arteries 10.0
446 autosomal recessive cutis laxa type iii 10.0
447 hereditary lymphedema i 10.0
448 muscular disease 10.0
449 bone disease 10.0
450 fibrous dysplasia 10.0
451 polycystic kidney disease 10.0
452 b-lymphoblastic leukemia/lymphoma 10.0
453 rapidly involuting congenital hemangioma 10.0
454 isolated ectopia lentis 10.0
455 frontometaphyseal dysplasia 10.0
456 migraine with aura 10.0
457 corneal disease 10.0
458 venous insufficiency 10.0
459 xerophthalmia 10.0
460 dry eye syndrome 10.0
461 pleomorphic lipoma 10.0
462 pleurisy 10.0
463 blepharophimosis 10.0
464 suppression amblyopia 10.0
465 amblyopia 10.0
466 amyotrophic neuralgia 10.0
467 esophageal atresia 10.0
468 leukodystrophy 10.0
469 charcot-marie-tooth disease 10.0
470 short bowel syndrome 10.0
471 interstitial nephritis 10.0
472 meningocele 10.0
473 hand, foot and mouth disease 10.0
474 tooth disease 10.0
475 borderline personality disorder 10.0
476 placenta praevia 10.0
477 hypoparathyroidism 10.0
478 primary hyperparathyroidism 10.0
479 disseminated intravascular coagulation 10.0
480 retinal microaneurysm 10.0
481 heart disease 10.0
482 alternating exotropia 10.0
483 exotropia 10.0
484 sciatic neuropathy 10.0
485 hemopericardium 10.0
486 horner's syndrome 10.0
487 pericardial effusion 10.0
488 mononeuropathy 10.0
489 synostosis 10.0
490 allergic disease 10.0
491 inflammatory spondylopathy 10.0
492 hemosiderosis 10.0
493 pica disease 10.0
494 neurogenic bladder 10.0
495 oligohydramnios 10.0
496 transvestism 10.0
497 entropion 10.0
498 bell's palsy 10.0
499 olecranon bursitis 10.0
500 leiomyoma 10.0
501 migraine without aura 10.0
502 mucopolysaccharidosis iv 10.0
503 guillain-barre syndrome 10.0
504 choreatic disease 10.0
505 keratoconjunctivitis sicca 10.0
506 dilated cardiomyopathy 10.0
507 carotid stenosis 10.0
508 periventricular leukomalacia 10.0
509 right bundle branch block 10.0
510 diarrhea 10.0
511 tuberous sclerosis 10.0
512 hyperparathyroidism 10.0
513 somatization disorder 10.0
514 facial paralysis 10.0
515 bladder neck obstruction 10.0
516 peptic esophagitis 10.0
517 acute cholangitis 10.0
518 root resorption 10.0
519 axenfeld-rieger syndrome 10.0
520 hereditary angioedema 10.0
521 aggressive periodontitis 10.0
522 angioedema 10.0
523 renovascular hypertension 10.0
524 mental depression 10.0
525 cystitis 10.0
526 neuritis 10.0
527 status epilepticus 10.0
528 impotence 10.0
529 melanoma 10.0
530 exostosis 10.0
531 dental caries 10.0
532 transient cerebral ischemia 10.0
533 ankylosis 10.0
534 craniosynostosis 10.0
535 relapsing-remitting multiple sclerosis 10.0
536 corneal dystrophy 10.0
537 agammaglobulinemia 10.0
538 benign mesothelioma 10.0
539 transitional cell carcinoma 10.0
540 dermatitis 10.0
541 epidermolysis bullosa 10.0
542 anuria 10.0
543 adenocarcinoma 10.0
544 acute kidney failure 10.0
545 food allergy 10.0
546 gingival overgrowth 10.0
547 gingivitis 10.0
548 lipid metabolism disorder 10.0
549 tracheal stenosis 10.0
550 bipolar disorder 10.0
551 palmoplantar keratosis 10.0
552 skin carcinoma 10.0
553 brachial plexus neuropathy 10.0
554 gastric adenocarcinoma 10.0
555 anovulation 10.0
556 arthropathy 10.0
557 cranial nerve palsy 10.0
558 thrombophlebitis 10.0
559 lynch syndrome 10.0
560 acute myocarditis 10.0
561 mouth disease 10.0
562 dentinogenesis imperfecta 10.0
563 systemic scleroderma 10.0
564 coronary stenosis 10.0
565 conjunctivochalasis 10.0
566 radiculopathy 10.0
567 myofascial pain syndrome 10.0
568 neuromuscular disease 10.0
569 hypotrichosis 10.0
570 multiple chemical sensitivity 10.0
571 intracranial hypotension 10.0
572 cavernous hemangioma 10.0
573 poliomyelitis 10.0
574 gerstmann syndrome 10.0
575 adjustment disorder 10.0
576 nutritional deficiency disease 10.0
577 infertility 10.0
578 intestinal disease 10.0
579 nerve compression syndrome 10.0
580 congestive heart failure 10.0
581 bronchitis 10.0
582 severe combined immunodeficiency 10.0
583 pulmonary valve stenosis 10.0
584 spondylitis 10.0
585 spinal stenosis 10.0
586 peroneal nerve paralysis 10.0
587 situs inversus 10.0
588 neuroblastoma 10.0
589 gastrointestinal system disease 10.0
590 hemarthrosis 10.0
591 carotid artery occlusion 10.0
592 intestinal obstruction 10.0
593 pellagra 10.0
594 lung disease 10.0
595 dermatitis herpetiformis 10.0
596 eating disorder 10.0
597 neuromyelitis optica 10.0
598 learning disability 10.0
599 autosomal dominant polycystic kidney disease 10.0
600 degenerative disc disease 10.0
601 pityriasis versicolor 10.0
602 macroglobulinemia 10.0
603 amyloidosis 10.0
604 periodic limb movement disorder 10.0
605 cholangitis 10.0
606 pulmonary embolism 10.0
607 bronchiectasis 10.0
608 dextrocardia 10.0
609 neurofibroma 10.0
610 stomatitis 10.0
611 aphthous stomatitis 10.0
612 pulmonary emphysema 10.0
613 vitreous detachment 10.0
614 hemorrhoid 10.0
615 polyarteritis nodosa 10.0
616 radioulnar synostosis 10.0
617 hypoglycemia 10.0
618 albinism 10.0
619 morquio syndrome 10.0
620 47,xyy 10.0
621 atp6v0a2-related cutis laxa 10.0
622 cleidocranial dysplasia spectrum disorder 10.0
623 48,xyyy 10.0
624 aneurysm of sinus of valsalva 10.0
625 bilateral frontal polymicrogyria 10.0
626 boerhaave syndrome 10.0
627 carcinoid syndrome 10.0
628 cardiac rupture 10.0
629 central pain syndrome 10.0
630 cerebrospinal fluid leak 10.0
631 chromosomal triplication 10.0
632 chromosome 6q deletion 10.0
633 cystic adenomatoid malformation of lung 10.0
634 dwarfism 10.0
635 eagle syndrome 10.0
636 encephalocele 10.0
637 erythrokeratoderma ''en cocardes'' 10.0
638 gigantism 10.0
639 hemangioendothelioma 10.0
640 neonatal stroke 10.0
641 new daily-persistent headache 10.0
642 oto-palatal-digital syndrome 10.0
643 parsonage turner syndrome 10.0
644 pili torti 10.0
645 pontine hemorrhage 10.0
646 single ventricular heart 10.0
647 synovial chondromatosis 10.0
648 thalassemia 10.0
649 wandering spleen 10.0
650 juvenile primary osteoporosis 10.0
651 depression 10.0
652 hereditary xanthinuria 10.0
653 stxbp1 encephalopathy 10.0
654 farsightedness 10.0
655 encephalopathy 10.0
656 floppy infant syndrome 10.0
657 hereditary neuropathies 10.0
658 hypersomnia 10.0
659 infantile hypotonia 10.0
660 myoclonus 10.0
661 myotonia 10.0
662 paresthesia 10.0
663 spinal cord injury 10.0
664 traumatic brain injury 10.0
665 tremor 10.0
666 whiplash 10.0
667 angioosteohypertrophic syndrome 10.0
668 interatrial communication 10.0
669 epithelioid hemangioendothelioma 10.0
670 autosomal dominant epidermolytic ichthyosis 10.0
671 drug-induced vasculitis 10.0
672 bilateral polymicrogyria 10.0
673 cerebral cortical dysplasia 10.0
674 solitary rectal ulcer syndrome 10.0
675 chronic intestinal failure 10.0
676 avascular necrosis 10.0
677 spontaneous intracranial hypotension 10.0
678 pik3ca-related overgrowth syndrome 10.0
679 rare vascular disease 10.0
680 monostotic fibrous dysplasia 10.0
681 premature aging 10.0
682 rare tumor 10.0
683 cardiogenic shock 10.0
684 atrial septal aneurysm 10.0
685 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
686 disease of mental health 10.0
687 hypercholesterolemia, familial, 1 9.9
688 ocular motor apraxia 9.9
689 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
690 dementia 9.9
691 severe acute respiratory syndrome 9.9
692 odontochondrodysplasia 9.8 PLOD1 FLNA COL5A2 COL5A1 COL3A1 COL1A2
693 buschke-ollendorff syndrome 9.8
694 williams-beuren syndrome 9.8
695 posttransplant acute limbic encephalitis 9.8
696 ectodermal dysplasia 9.7
697 alzheimer disease 9.7
698 type 2 diabetes mellitus 9.7
699 renal cell carcinoma, nonpapillary 9.7
700 obsessive-compulsive disorder 9.7
701 triiodothyronine receptor auxiliary protein 9.7
702 immune deficiency disease 9.7
703 gallbladder disease 1 9.7
704 asthma 9.7
705 stroke, ischemic 9.7
706 bulimia nervosa 9.7
707 microcephaly, epilepsy, and diabetes syndrome 9.7
708 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 9.7
709 ullrich congenital muscular dystrophy 2 9.7
710 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
711 angina pectoris 9.7
712 deficiency anemia 9.7
713 disease by infectious agent 9.7
714 hyperphosphatemia 9.7
715 middle east respiratory syndrome 9.7
716 urolithiasis 9.7
717 urinary tract infection 9.7
718 asbestosis 9.7
719 social phobia 9.7
720 chlamydia 9.7
721 tetanus 9.7
722 neutropenia 9.7
723 male infertility 9.7
724 acoustic neuroma 9.7
725 urethritis 9.7
726 eclampsia 9.7
727 generalized anxiety disorder 9.7
728 hypothyroidism 9.7
729 enamel erosion 9.7
730 opiate dependence 9.7
731 cervicitis 9.7
732 substance abuse 9.7
733 neurilemmoma 9.7
734 neurotic disorder 9.7
735 pneumonia 9.7
736 prion disease 9.7
737 measles 9.7
738 subacute delirium 9.7
739 chickenpox 9.7
740 intermediate coronary syndrome 9.7
741 diabetes mellitus 9.7
742 sickle cell disease 9.7
743 broken heart syndrome 9.7
744 asbestos intoxication 9.7

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:



Diseases related to Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:


back pain; sciatica; muscle cramp

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

46 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
2 cardiovascular system MP:0005385 10.11 AEBP1 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3 integument MP:0010771 10.07 ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
4 mortality/aging MP:0010768 9.97 AEBP1 B3GALT6 CHST14 COL1A1 COL1A2 COL3A1
5 respiratory system MP:0005388 9.5 ADAMTS2 C1R COL1A1 COL3A1 COL5A2 FLNA
6 skeleton MP:0005390 9.28 ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 FLNA

Drugs & Therapeutics for Ehlers-Danlos Syndrome

Drugs for Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 42, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Neurotransmitter Agents Phase 4
3 Adrenergic Antagonists Phase 4
4 Adrenergic beta-Antagonists Phase 4
5 Adrenergic Agents Phase 4
6 Sympathomimetics Phase 4
7 Antihypertensive Agents Phase 4
8 Adrenergic beta-1 Receptor Antagonists Phase 4
9 Vasodilator Agents Phase 4
10
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
11
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
12 Giapreza Phase 3
13 Angiotensinogen Phase 3
14 Angiotensin Receptor Antagonists Phase 3
15 Angiotensin II Type 1 Receptor Blockers Phase 3
16
Ethanol Approved 64-17-5 702
17
Acetylcholine Approved, Investigational 51-84-3 187
18
Mecasermin Approved, Investigational 68562-41-4
19
Lidocaine Approved, Vet_approved 137-58-6 3676
20
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
21
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
22
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
23 Vitamin B9
24 Nutrients
25 Micronutrients
26 Trace Elements
27 Photosensitizing Agents
28 Vitamin B Complex
29 Vitamins
30 Folate
31 Vitamin B2
32 Dermatologic Agents
33 Analgesics, Opioid
34 Anti-Inflammatory Agents
35 Antibodies
36 Immunoglobulins
37 Liver Extracts
38 Anesthetics
39 Anti-Arrhythmia Agents
40 Sodium Channel Blockers
41 Anesthetics, Local
42 Diuretics, Potassium Sparing

Interventional clinical trials:

(showing 39, show less)
# Name Status NCT ID Phase Drugs
1 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
2 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial. Completed NCT02597361 Phase 3 Irbesartan;Placebo
3 A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome Completed NCT00001966 Phase 2 Mind-body therapy
4 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Unknown status NCT03596437
5 Compression Garments Effects on Postural Balance of Patients With Hypermobility Type of Ehlers-danlos Syndrome, a Prospective Study on 40 Patients Unknown status NCT03359135
6 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
7 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
8 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
9 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Unknown status NCT02985710
10 Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency) Completed NCT01356134
11 Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome Completed NCT02817490
12 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
13 Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
14 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783 mecasermin;Saline
15 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis Completed NCT01367977
16 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
17 Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
18 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
19 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
20 Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging Completed NCT01096264
21 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
22 Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome Recruiting NCT03986229
23 Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study Recruiting NCT04734041
24 Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure? Recruiting NCT04310644
25 Retuning the Nervous System in Youth With Chronic Pain Recruiting NCT03686748 Early Phase 1
26 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Recruiting NCT04020107
27 Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome Recruiting NCT03093493
28 Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies (POTSKog-Study Aachen) Recruiting NCT03681080
29 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
30 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
31 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Active, not recruiting NCT03451188
32 Efficiency Clinical Study of NOVATEX MEDICAL Compression Garments in Patients With Ehlers-Danlos Syndrome Active, not recruiting NCT03330977
33 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482
34 Effects of a Multidisciplinary Outpatient Rehabilitation Program on Physical Capacity and Quality of Life in Patients With Ehlers-Danlos Syndrome. Enrolling by invitation NCT04680793
35 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
36 Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers Enrolling by invitation NCT04036305 0.9% Sodium Chloride Injection;Lidocaine Injection 2%;Bupivacaine Injection 0.5%
37 Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04133272
38 Face Study of the Effects of Needling Using the Epistamp for the Improvement of Fine Lines, Deep Wrinkles, and Collagen Production. Not yet recruiting NCT04742803
39 Effectiveness of a 6-month Home-based Exercise Program for Treating Shoulder Instability in Patients With Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD): A Pilot Randomized Controlled Trial. Terminated NCT04666896

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Cochrane evidence based reviews: ehlers-danlos syndrome

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome 29

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

40
Skin, Eye, Uterus, Colon, Liver, Small Intestine, Spleen

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(showing 3336, show less) <
# Title Authors PMID Year
1
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome. 61 42
33223285 2021
2
Increased augmentation index in patients with Ehlers-Danlos syndrome. 61 42
32933483 2020
3
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. 20 61
24994860 2015
4
The Ehlers-Danlos syndrome. 61 20
24443025 2014
5
Correlation between Oral Health-Related Quality of Life and Objectively Measured Oral Health in People with Ehlers-Danlos Syndromes. 42
33171578 2020
6
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 61 54
20503305 2010
7
Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. 61 54
20089348 2010
8
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 54 61
19455184 2009
9
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 54 61
19639654 2009
10
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. 54 61
19751346 2009
11
Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. 61 54
19477391 2009
12
Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. 61 54
19133250 2009
13
Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. 61 54
18805790 2008
14
Vascular type of Ehlers-Danlos syndrome. 54 61
19023163 2008
15
Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. 54 61
18485758 2008
16
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. 54 61
18405669 2008
17
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. 54 61
18335242 2008
18
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. 61 54
18158310 2008
19
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 54 61
18284404 2008
20
Natural variation in four human collagen genes across an ethnically diverse population. 54 61
18272325 2008
21
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. 61 54
18389341 2008
22
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. 54 61
18595676 2008
23
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 54 61
17702048 2007
24
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. 61 54
17651433 2007
25
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. 54 61
17487505 2007
26
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 61 54
17211858 2007
27
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 54 61
17206620 2007
28
Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. 54 61
17453911 2007
29
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. 61 54
17033827 2007
30
A model of tenascin-X integration within the collagenous network. 54 61
17078949 2006
31
A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. 61 54
16863833 2006
32
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). 54 61
16583246 2006
33
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 61 54
16816023 2006
34
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. 54 61
16492673 2006
35
Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. 54 61
16567571 2006
36
Dermal connective tissue development in mice: an essential role for tenascin-X. 54 61
16331473 2006
37
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. 61 54
16407265 2006
38
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 61 54
15994863 2006
39
Structural abnormalities of the cornea and lid resulting from collagen V mutations. 54 61
16431952 2006
40
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 54 61
16937863 2006
41
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 61 54
16278880 2005
42
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 61 54
15979919 2005
43
Caffey disease: an unlikely collagenopathy. 54 61
15864344 2005
44
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. 54 61
15793839 2005
45
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 54 61
15666309 2005
46
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. 61 54
15859521 2005
47
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 61 54
15558324 2005
48
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 54 61
15668422 2005
49
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 61 54
15389701 2004
50
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. 61 54
15373769 2004
51
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. 61 54
15365990 2004
52
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 54 61
15211654 2004
53
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 54 61
15077201 2004
54
Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. 54 61
15095409 2004
55
A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. 54 61
15366699 2004
56
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. 61 54
15102077 2004
57
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. 54 61
14970208 2004
58
Exclusion of candidate genes in a family with arterial tortuosity syndrome. 54 61
15054833 2004
59
Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. 61 54
14966763 2004
60
Vascular Ehlers-Danlos syndrome. 61 54
15127738 2004
61
Tenascins: regulation and putative functions during pathological stress. 61 54
12845616 2003
62
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. 54 61
12646579 2003
63
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. 54 61
12694234 2003
64
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. 54 61
12417421 2002
65
Localization and analysis of the principal promoter for human tenascin-X. 54 61
12376099 2002
66
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. 61 54
12354783 2002
67
Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. 54 61
12173720 2002
68
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 54 61
11992482 2002
69
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. 61 54
11925569 2002
70
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. 61 54
11741898 2002
71
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. 54 61
11843319 2002
72
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. 61 54
11577371 2001
73
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 54 61
11642233 2001
74
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. 61 54
11532373 2001
75
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. 61 54
11408482 2001
76
Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. 54 61
11359405 2001
77
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. 54 61
11168790 2001
78
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. 61 54
10923041 2000
79
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. 54 61
10777716 2000
80
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 61 54
10739762 2000
81
Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin. 61 54
10651716 2000
82
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? 61 54
10602121 2000
83
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. 61 54
10982177 2000
84
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 54 61
10417273 1999
85
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. 61 54
10073586 1999
86
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. 61 54
10051163 1999
87
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. 61 54
9841712 1999
88
Cloning and characterization of a third human lysyl hydroxylase isoform. 61 54
9724729 1998
89
Genetic diseases with rheumatic manifestations in children. 61 54
9746866 1998
90
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. 54 61
9649943 1998
91
A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI. 61 54
9502428 1998
92
Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts. 61 54
10452818 1998
93
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. 54 61
9399899 1997
94
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 54 61
9295084 1997
95
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. 61 54
9288108 1997
96
Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes. 61 54
9499606 1997
97
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. 61 54
9050868 1997
98
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 61 54
9042913 1997
99
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. 61 54
9036918 1997
100
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. 54 61
8981946 1997
101
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. 54 61
8950675 1996
102
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). 54 61
8923000 1996
103
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 54 61
8881656 1996
104
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. 54 61
8673139 1996
105
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. 61 54
8884076 1996
106
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. 61 54
8816205 1996
107
Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum. 54 61
8547032 1995
108
Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 61 54
8526472 1995
109
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. 54 61
7487954 1995
110
Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation. 54 61
7546986 1995
111
Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. 61 54
7713497 1994
112
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. 54 61
8071956 1994
113
Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone. 54 61
8186768 1994
114
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. 61 54
8019562 1994
115
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. 54 61
8411057 1993
116
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. 54 61
8317500 1993
117
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. 61 54
8098182 1993
118
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. 54 61
8320698 1993
119
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. 61 54
8449506 1993
120
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. 61 54
8477261 1993
121
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. 61 54
1352273 1992
122
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. 54 61
1556139 1992
123
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. 54 61
1370809 1992
124
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. 54 61
1757960 1991
125
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 54 61
1867198 1991
126
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. 61 54
1905723 1991
127
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. 61 54
1998337 1991
128
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. 61 54
1990839 1991
129
Clinical screening for collagen defects in connective tissue diseases. 54 61
2286029 1990
130
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. 54 61
2145268 1990
131
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. 61 54
2365710 1990
132
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. 61 54
2349939 1990
133
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. 61 54
2343586 1990
134
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities. 61
33715602 2021
135
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases. 61
33581222 2021
136
Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease. 61
33334864 2021
137
When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder. 61
33459162 2021
138
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome. 61
32306189 2021
139
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts. 61
33383104 2021
140
[Ehlers-Danlos syndrome: A case report]. 61
33388190 2021
141
Capsulorraphy with Achilles allograft augmentation for shoulder instability in patients with Ehlers-Danlos syndrome. 61
32721506 2021
142
Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy. 61
33523542 2021
143
Deconstructing and reconstructing joint hypermobility on an evo-devo perspective. 61
33668066 2021
144
The effectiveness of conservative interventions for the management of syndromic hypermobility: a systematic literature review. 61
32681365 2021
145
Autoimmune Small Fiber Neuropathy Associated With Ehlers-Danlos Syndrome Treated With Intravenous Immunoglobulins. 61
33596000 2021
146
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 61
31318301 2021
147
More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. 61
33739556 2021
148
Multiple odontogenic keratocysts in Ehlers-Danlos syndrome: a rare case report. 61
33750365 2021
149
Shoulder Arthroplasty is a Viable Option in Patients with Ehlers-Danlos Syndrome. 61
33812023 2021
150
Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. 61
33651202 2021
151
Inferior vena cava aneurysm in a patient with Ehlers-Danlos syndrome. 61
33745857 2021
152
Novel gross deletion mutation c.-105_4042+498del in the TNXB gene in a Japanese woman with classical-like Ehlers-Danlos syndrome: A case of uneventful pregnancy and delivery. 61
33721335 2021
153
Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". 61
31287330 2021
154
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review. 61
33656776 2021
155
Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study. 61
33641388 2021
156
Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study. 61
31594391 2021
157
Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome. 61
33586854 2021
158
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. 61
33382209 2021
159
A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon. 61
33755833 2021
160
Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome. 61
33388686 2021
161
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. 61
33733462 2021
162
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders. 61
33369194 2021
163
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. 61
33737726 2021
164
A Case of Diffuse Pulmonary Ossification with Connective Tissue Weakness Potentially Due to Vascular Ehlers-Danlos Syndrome. 61
33776002 2021
165
The first experience of denosumab therapy on patients with Ehlers-Danlos syndrome and osteoporosis: detailed observation of two patients. 61
32692295 2021
166
Spermidine-induced recovery of human dermal structure and barrier function by skin microbiome. 61
33608630 2021
167
Impact of joint hypermobility syndrome on gastric accommodation and nutrient tolerance in functional dyspepsia. 61
33528850 2021
168
Noniatrogenic Medial Patellar Dislocations: Case Series and International Patellofemoral Study Group Experience. 61
33748301 2021
169
Genetic counseling following direct-to consumer genetic testing: Consumer perspectives. 61
32648332 2021
170
Peripheral nerve blocks in children and adolescents with Ehlers-Danlos syndrome hypermobility type. 61
32972920 2021
171
[Spontaneous coronary artery dissection]. 61
33538629 2021
172
Pulmonary Manifestations of Skin Disorders in Children. 61
33228937 2021
173
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report. 61
33579342 2021
174
Age Pathognomonic Indicators of Injury Predisposition as a Basis for Public Health Preservation during Physical Activity. 61
33670801 2021
175
A giant inguinal hernia in a patient with Ehlers-Danlos syndrome. 61
33617482 2021
176
Atypical cause of intestinal pseudo-obstruction: Ehlers-Danlos syndrome. 61
33545247 2021
177
Suicidal Behaviors in Women With the Hypermobile Ehlers-Danlos Syndrome. 61
33596399 2021
178
Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome. 61
32109633 2021
179
Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14). 61
32601684 2021
180
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. 61
33005042 2021
181
A 21-year-old woman with Ehlers-Danlos syndrome and persistent lightheadedness. 61
33526462 2021
182
Ehlers-Danlos Syndrome Type IV - Anaesthetic Considerations. 61
33650410 2021
183
Medical Therapy Affects the Arteriopathy of Vascular Ehlers-Danlos Syndrome. 61
33223282 2021
184
Exploring the underlying mechanism of pain-related disability in hypermobile adolescents with chronic musculoskeletal pain. 61
32862151 2021
185
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes. 61
33161638 2021
186
Beyond bones: The relevance of variants of connective tissue (hypermobility) to fibromyalgia, ME/CFS and controversies surrounding diagnostic classification: an observational study. 61
33479068 2021
187
Role of Clinical Genetic Testing in the Management of Aortopathies. 61
33475873 2021
188
Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease. 61
33468574 2021
189
Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. 61
33437956 2021
190
Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study. 61
33603376 2021
191
Preservation of Posterior Tibial Artery Flow Following Dissection With Associated Aneurysmal Degeneration in Ehlers-Danlos Syndrome Type IV Treated With Flow-Diverting Stent. 61
33503502 2021
192
Treatment of Severe Emotionally Unstable Personality Disorder with Comorbid Ehlers-Danlos Syndrome and Functional Neurological Disorder in an Inpatient Setting: A Case for Specialist Units without Restrictive Interventions. 61
33728084 2021
193
Absence of Myocardial Support at the Base of the Left Coronary Aortic Sinus in a Patient With Ehlers-Danlos Syndrome. 61
33268661 2021
194
The management of pain and hypermobility in Ehlers-Danlos syndrome. Comment on "Pain in Ehlers-Danlos syndrome" by Benistan et al. Joint Bone Spine. 2020;87:199-201. 61
33130233 2021
195
Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function. 61
33096204 2021
196
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome. 61
33498938 2021
197
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. 61
32770541 2021
198
Ehlers-Danlos syndrome: molecular and clinical characterization of TNXA/TNXB chimeras in congenital adrenal hyperplasia. 61
33482002 2021
199
Prevalence of gastrointestinal, cardiovascular, autonomic, and allergic manifestations in hospitalized patients with Ehlers-Danlos syndrome: a case-control study. 61
33410480 2021
200
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome. 61
33189937 2021
201
Clinical Features and Associations of Descending Perineum Syndrome in 300 Adults with Constipation in Gastroenterology Referral Practice. 61
32666237 2020
202
Management of a Complicated Internal Herniation After Roux-en-Y Gastric Bypass in a 28-Week Pregnant Woman. 61
32996100 2020
203
Endoscopic Microvascular Decompression for Vagoglossopharyngeal Neuralgia. 61
33520548 2020
204
Formation of a traumatic air cyst and ensuing hemopneumothorax during CT angiography in a patient with Ehlers-Danlos syndrome. 61
33299598 2020
205
Maintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study. 61
32780270 2020
206
Spinopelvic Instability in Conversion Total Hip Arthroplasty: A Complicated Case of Loeys-Dietz Syndrome. 61
33385043 2020
207
The Chalice Sign : Characteristic Morphology of the Cervical Carotid Bifurcation in Patients with Loeys-Dietz Syndrome. 61
31552453 2020
208
Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome. 61
32423364 2020
209
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. 61
33332743 2020
210
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion. 61
32722848 2020
211
Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. 61
33693443 2020
212
Mechanisms and management of gastrointestinal symptoms in postural orthostatic tachycardia syndrome. 61
33140561 2020
213
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. 61
31060411 2020
214
An international survey on clinicians' perspectives on the diagnosis and management of chronic intestinal pseudo-obstruction and enteric dysmotility. 61
32696607 2020
215
Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers-Danlos Syndrome. 61
33478827 2020
216
Cosegregation of postural orthostatic tachycardia syndrome, hypermobile Ehlers-Danlos syndrome, and mast cell activation syndrome. 61
32798618 2020
217
Functional gastrointestinal disorders are increased in joint hypermobility-related disorders with concomitant postural orthostatic tachycardia syndrome. 61
32803794 2020
218
Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. 61
33368646 2020
219
VETCOSED study: efficacy of compressive garments for patients with hypermobile Ehlers-Danlos syndrome on shoulder stability and muscles strength. 61
33353449 2020
220
Pelvic Girdle Pain, Hypermobility Spectrum Disorder and Hypermobility-Type Ehlers-Danlos Syndrome: A Narrative Literature Review. 61
33317183 2020
221
Ehlers-Danlos syndrome type IV: a case report of a rare cause of spontaneous sigmoid perforation and enteroatmospheric fistulae in a child. 61
33289853 2020
222
Altered multi-segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers-Danlos Syndrome/Hypermobility spectrum disorder. A case-control study. 61
33275840 2020
223
Ehlers-Danlos Syndrome in Pregnancy: A Review. 61
33113401 2020
224
A randomised controlled trial of heavy shoulder strengthening exercise in patients with hypermobility spectrum disorder or hypermobile Ehlers-Danlos syndrome and long-lasting shoulder complaints: study protocol for the Shoulder-MOBILEX study. 61
33261635 2020
225
Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy. 61
33272087 2020
226
Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency setting. 61
33299587 2020
227
Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome. 61
33102932 2020
228
Electromyographic muscle activity and three-dimensional scapular kinematics in patients with multidirectional shoulder instability. 61
33253470 2020
229
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. 61
32938213 2020
230
Republished: Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique. 61
33060177 2020
231
Current management of the vascular subtype of Ehlers-Danlos syndrome. 61
32941194 2020
232
Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome. 61
32318814 2020
233
Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat. 61
32860234 2020
234
The use of selective laser melting in the fabrication of maxillary and mandibular metal base complete dentures for a patient with Ehlers-Danlos syndrome: A clinical report. 61
31955833 2020
235
Neuromuscular Activation Differences During Gait in Patients With Ehlers-Danlos Syndrome and Healthy Adults. 61
31498548 2020
236
Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report. 61
33277910 2020
237
Use of complementary therapies for chronic pain management in patients with reported Ehlers-Danlos syndrome or hypermobility spectrum disorders. 61
32909698 2020
238
Arterial complications in classical Ehlers-Danlos syndrome: a case series. 61
32467296 2020
239
Management of Spontaneous Liver Hematoma in Ehlers-Danlos Syndrome Type IV: A Case Report. 61
33482943 2020
240
Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome). 61
33203450 2020
241
Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection. 61
33249204 2020
242
Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases. 61
32822956 2020
243
Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives. 61
33244831 2020
244
3d phase-contrast nanotomography of unstained human skin biopsies may identify morphological differences in the dermis and epidermis between subjects. 61
33022848 2020
245
Recommendations From the Twitter Hashtag #DoctorsAreDickheads: Qualitative Analysis. 61
33112246 2020
246
Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study. 61
33124992 2020
247
Psychiatric Disorder in Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome-Hypermobility Type. 61
33125200 2020
248
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome. 61
32483055 2020
249
A rare case report of Horner syndrome revealing an internal carotid artery dissection in a patient with Ehlers-Danlos syndrome. 61
32800415 2020
250
Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1. 61
33109150 2020
251
Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic. 61
33320032 2020
252
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. 61
32720758 2020
253
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation. 61
33129265 2020
254
Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model. 61
32115322 2020
255
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. 61
32572181 2020
256
Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic. 61
31903687 2020
257
Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon. 61
32518415 2020
258
A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. 61
33143196 2020
259
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness. 61
32988710 2020
260
Carpometacarpal Arthroplasty and Ulnar Collateral Ligament Reconstruction in a Patient with Suspected Ehlers-Danlos Syndrome: A Case Report and Review of the Literature. 61
33335376 2020
261
Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study. 61
32738018 2020
262
Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load. 61
32996434 2020
263
Enteroatmospheric fistula repair in Ehlers-Danlos syndrome type IV: a novel management technique using ABRA device. 61
32967950 2020
264
Diversity in heritable disorders of connective tissue at a single center. 61
32862725 2020
265
Connective Tissue Abnormalities in Patients with Ruptured Intracranial Aneurysms and No Known Systemic Connective Tissue Disorder. 61
32553603 2020
266
Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control. 61
32176287 2020
267
Primary Total Hip Arthroplasty in Patients With Ehlers-Danlos Syndrome: A Retrospective Matched-Cohort Study. 61
32577483 2020
268
Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome. 61
32417148 2020
269
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome. 61
31370685 2020
270
Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results. 61
32901788 2020
271
Pain Symptomatology and Management in Pediatric Ehlers-Danlos Syndrome: A Review. 61
32967103 2020
272
Psychosocial Influence of Ehlers-Danlos Syndrome in Daily Life of Patients: A Qualitative Study. 61
32899328 2020
273
Understanding hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders in the context of childbearing: An international qualitative study. 61
32535291 2020
274
Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome. 61
32904109 2020
275
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity. 61
32915071 2020
276
Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome. 61
32426553 2020
277
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. 61
32671420 2020
278
Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium. 61
31964572 2020
279
Leveraging Digital Technology for Treatment of Young Patients with Congenital Conditions: A Clinical Report. 61
32827231 2020
280
Editorial Commentary: "Loose Lips Sink Ships"-But What About "Loose Hips"? 61
32747062 2020
281
Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X). 61
32715272 2020
282
Direct Distal Renal Artery Aneurysm Repair. 61
32402807 2020
283
Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility. 61
32692054 2020
284
Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-Year Patient-Reported Outcomes With Subanalysis of Patients With Ehlers-Danlos Syndrome. 61
32360268 2020
285
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32504190 2020
286
Ehlers-Danlos syndrome. 61
32811922 2020
287
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32488770 2020
288
Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection? 61
32879701 2020
289
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome. 61
32170975 2020
290
Systemic manifestations of Ehlers-Danlos syndrome. 61
33456144 2020
291
Topographic characterization and in vitro biofilm adhesion to titanium and polypropylene membranes used for alveolar preservation. 61
32831503 2020
292
Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. 61
32442117 2020
293
Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report. 61
32480169 2020
294
Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV. 61
30296907 2020
295
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. 61
32736638 2020
296
Ehlers-Danlos Syndrome: An Analysis of the Current Treatment Options. 61
32709178 2020
297
Ehlers-Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses-A Study from the Swedish Quality Registry for Pain Rehabilitation. 61
32645981 2020
298
Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? 61
31693161 2020
299
Trivial Trauma Causing Large Intramuscular Hematoma in a Child with Undiagnosed Vascular Ehlers-Danlos Syndrome. 61
32939126 2020
300
Bilateral carotid artery dissection due to Eagle syndrome in a patient with vascular Ehlers-Danlos syndrome: a case report. 61
32693780 2020
301
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. 61
31862401 2020
302
Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome. 61
32187067 2020
303
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome. 61
32482891 2020
304
The Effects of Resistance Training on Health of Children and Adolescents With Disabilities. 61
33281519 2020
305
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. 61
32291442 2020
306
Compressive Garments in Individuals with Autism and Severe Proprioceptive Dysfunction: A Retrospective Exploratory Case Series. 61
32668622 2020
307
Pregnancy outcomes in women with Ehlers-Danlos Syndrome. 61
32654548 2020
308
Risperidone for the Management of Treatment-Resistant Anxiety in a Patient with Ehlers-Danlos Syndrome: A Case Report. 61
32879817 2020
309
Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery. 61
32529513 2020
310
The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). 61
31267471 2020
311
Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome. 61
31883462 2020
312
The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study. 61
32026810 2020
313
A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. 61
32655343 2020
314
Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications. 61
32197145 2020
315
Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability. 61
32489841 2020
316
Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. 61
32414079 2020
317
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
318
Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. 61
32471395 2020
319
The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. 61
32412854 2020
320
[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases]. 61
32392932 2020
321
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. 61
32091183 2020
322
A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder. 61
32434316 2020
323
Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence. 61
32125876 2020
324
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. 61
32295219 2020
325
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. 61
31655143 2020
326
Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience. 61
32489735 2020
327
Zinc and Its Transporters in Epigenetics. 61
32274919 2020
328
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences. 61
31989797 2020
329
Relationship of rare disorder latent clusters to anxiety and depression symptoms. 61
31855040 2020
330
Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome. 61
32300146 2020
331
Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study. 61
32293111 2020
332
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. 61
28211643 2020
333
An old drug for a rare disease: The example of celiprolol for vascular Ehlers-Danlos syndrome. 61
32127191 2020
334
A review of Ehlers-Danlos syndrome. 61
32175940 2020
335
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report. 61
32338564 2020
336
Clinical variability in children with dolichoarteriopathies of the internal carotid artery. 61
31701280 2020
337
Class II malocclusion and ectopic canine treated with Pendulum appliance and TADs in a high-relapse potential Ehlers-Danlos patient: A case report. 61
32672664 2020
338
Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations. 61
31141158 2020
339
Family history of associated disorders in patients with postural tachycardia syndrome. 61
32008600 2020
340
Inherited cause of in utero digital malformations. 61
32209574 2020
341
Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound. 61
31629650 2020
342
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome. 61
31833208 2020
343
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. 61
31840928 2020
344
Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. 61
31955324 2020
345
Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms. 61
31432500 2020
346
Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. 61
32072093 2020
347
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. 61
31794058 2020
348
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). 61
32161841 2020
349
RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers Danlos syndrome. 61
32083221 2020
350
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. 61
32174067 2020
351
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome. 61
31954224 2020
352
Isolated Renal Artery Dissection: A Systematic Review of Case Reports. 61
32076589 2020
353
Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). 61
29938556 2020
354
Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series. 61
31859106 2020
355
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. 61
31323331 2020
356
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. 61
31056650 2020
357
Ehlers-Danlos syndrome presenting with primary nocturnal enuresis. 61
32024714 2020
358
Podiatry alterations in Ehlers-Danlos syndrome. 61
31255365 2020
359
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. 61
31600821 2020
360
Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant. 61
31531849 2020
361
Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy. 61
31260161 2020
362
Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study. 61
32093191 2020
363
Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. 61
31639107 2020
364
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 61
31949249 2020
365
Combined Nutcracker and Ehlers-Danlos Syndromes: A Case Report. 61
33078146 2020
366
Effect of shading and grafting on yield and quality of tomato. 61
31591726 2020
367
The Roles of Tenascins in Cardiovascular, Inflammatory, and Heritable Connective Tissue Diseases. 61
33335533 2020
368
The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review. 61
31938779 2020
369
High Prevalence of Connective Tissue Gene Variants in Professional Ballet. 61
31765226 2020
370
A case of endovascular therapy for treating idiopathic arterial deteriorations of unknown etiology. 61
33039783 2020
371
Case - Penile fracture in a patient with Ehlers-Danlos syndrome. 61
31670645 2020
372
Complications in Children with Ehlers-Danlos Syndrome Following Spine Surgery: Analysis of the Pediatric National Surgery Quality Improvement Program Database. 61
31526884 2020
373
Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome. 61
31449940 2020
374
Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome. 61
32089933 2020
375
Rupture of a Median Sacral Artery Aneurysm in a Patient with Vascular Ehlers Danlos Syndrome. 61
33078159 2020
376
Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study. 61
32399126 2020
377
Local anaesthetic resistance in a patient with Ehlers-Danlos syndrome undergoing caesarean section with continuous spinal anaesthesia. 61
32537613 2020
378
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. 61
31273343 2020
379
Appendiceal torsion in Ehlers-Danlos syndrome: A case report of a rare phenomenon in a rare disease. 61
32721881 2020
380
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. 61
31609726 2020
381
Surgical treatment of abdominal wall weakness and lumbar hernias in Ehlers-Danlos syndrome - Case report. 61
33010607 2020
382
Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings. 61
32169283 2020
383
The Many Facets of Hypermobile Ehlers-Danlos Syndrome. 61
31904772 2020
384
Surgical Management of Colonic Perforation in a Patient with Vascular Ehlers-Danlos Syndrome with no Family History: A Case Report. 61
33134602 2020
385
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives. 61
31692252 2020
386
Agenesis of the corpus callosum: a rare association with Ehlers-Danlos syndrome. 61
33193788 2020
387
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. 61
31353273 2020
388
An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients. 61
31668813 2020
389
Low function of natural killer cells in treated classic Menkes disease. 61
32558428 2020
390
Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report. 61
31530171 2020
391
MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME. 61
29443807 2020
392
Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models. 61
30241104 2019
393
Bent Out of Shape: A Case of Abdominal Pain. 61
30346365 2019
394
Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives. 61
31847606 2019
395
Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes. 61
31566640 2019
396
Sudden death in acrogeria Gottron type. 61
31673870 2019
397
Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. 61
31791984 2019
398
Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. 61
31391389 2019
399
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. 61
31905796 2019
400
Extradural Compressive Spinal Cerebrospinal Fluid Leak in Ehlers-Danlos Syndrome. 61
31479794 2019
401
Stabilization of Recurrent Elbow Instability in a Patient with Ehlers-Danlos Syndrome: A Case Report. 61
31850912 2019
402
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule. 61
31515912 2019
403
Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group. 61
31206735 2019
404
Hemothorax in vascular Ehlers-Danlos syndrome. 61
29050841 2019
405
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. 61
31126764 2019
406
Subglottic tracheal stenosis associated with Ehlers-Danlos Syndrome, Hypermobilty Type. 61
31476586 2019
407
Penile fracture in a patient with Ehlers-Danlos syndrome: A case report. 61
31641596 2019
408
Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders. 61
31582002 2019
409
Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initiating Hemodialysis. 61
31891008 2019
410
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. 61
31394236 2019
411
Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. 61
31575845 2019
412
Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. 61
30342098 2019
413
Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. 61
31685485 2019
414
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. 61
31775249 2019
415
Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome. 61
31780602 2019
416
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. 61
31784499 2019
417
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. 61
31482689 2019
418
Anterior Capsule Reconstruction of the Native Hip: A Technique Guide. 61
32042580 2019
419
Atypical Symptomatic Bilateral Spontaneous Cavernous Carotid Aneurysm with Systemic Vessel Wall Pathology in Young Female: A Rare Case Report. 61
31903372 2019
420
[Therapy of Peripheral Artery Aneurysms]. 61
31634974 2019
421
Nonatherosclerotic Abdominal Vasculopathies. 61
31200053 2019
422
Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study. 61
30672816 2019
423
Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases. 61
31558499 2019
424
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. 61
31294848 2019
425
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. 61
31666125 2019
426
Restoring extracellular matrix synthesis in senescent stem cells. 61
31287964 2019
427
Median Arcuate Ligament Syndrome and Its Associated Conditions. 61
31657316 2019
428
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. 61
31731524 2019
429
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. 61
31614862 2019
430
Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. 61
31080229 2019
431
Power-Injection Injury in a Patient with Ehlers-Danlos Syndrome. 61
31279686 2019
432
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. 61
31329982 2019
433
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. 61
31365140 2019
434
Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome. 61
31788374 2019
435
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. 61
30783660 2019
436
The skin rejuvenation associated treatment-Fraxel laser, Microbotox, and low G prime hyaluronic acid: preliminary results. 61
30762198 2019
437
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. 61
31569816 2019
438
Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61
31347287 2019
439
Recognizing and Effectively Managing Hypermobility-Related Conditions. 61
31158283 2019
440
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population. 61
31153935 2019
441
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. 61
30837697 2019
442
Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing. 61
31250196 2019
443
Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. 61
31546637 2019
444
A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. 61
31517854 2019
445
Molecular underpinnings of integrin binding to collagen-mimetic peptides containing vascular Ehlers-Danlos syndrome-associated substitutions. 61
31406019 2019
446
[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. 61
31133401 2019
447
Utilization of echocardiography in Ehlers-Danlos syndrome. 61
31328377 2019
448
Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome. 61
31556922 2019
449
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. 61
31129566 2019
450
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. 61
31229653 2019
451
A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis? 61
31183529 2019
452
Safety of Endoscopy in Heritable Connective Tissue Disorders. 61
31185005 2019
453
Genetic basis of hereditary thoracic aortic aneurysms and dissections. 61
31000321 2019
454
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
455
Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome. 61
31388534 2019
456
Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. 61
30656563 2019
457
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. 61
30914273 2019
458
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. 61
31075413 2019
459
Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study. 61
30923956 2019
460
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. 61
30474650 2019
461
Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. 61
31345188 2019
462
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. 61
31102747 2019
463
Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. 61
31188187 2019
464
Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria. 61
31075184 2019
465
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 61
31288483 2019
466
Bilateral Medial and Lateral Patellofemoral Ligament Reconstruction in a Patient with Hypermobility Type Ehlers-Danlos Syndrome: A Case Report. 61
31390333 2019
467
An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population. 61
31329366 2019
468
Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome. 61
31324749 2019
469
[Syndromes with skin fragility]. 61
31197392 2019
470
Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. 61
31239369 2019
471
Genomic analysis of claw lesions in Holstein cows: Opportunities for genomic selection, quantitative trait locus detection, and gene identification. 61
31056323 2019
472
You're the Flight Surgeon. 61
31101147 2019
473
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
474
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. 61
31193991 2019
475
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington. 61
30327540 2019
476
Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses. 61
30788842 2019
477
The Genetics of Pneumothorax. 61
30681372 2019
478
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 61
31063316 2019
479
Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome. 61
31594655 2019
480
Clinical Case of Acute Non-Traumatic Hand Compartment Syndrome and Systematic Review for the Upper Extremity. 61
31215795 2019
481
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. 61
30668708 2019
482
Prolapse and regurgitation of the four heart valves in a patient with Ehlers-Danlos Syndrome: a case report. 61
31449614 2019
483
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. 61
31061749 2019
484
Re: Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94. 61
30913950 2019
485
Re: re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. 61
30967294 2019
486
Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. 61
30992226 2019
487
Multidirectional Shoulder Instability With Bone Loss and Prior Failed Latarjet Procedure: Treatment With Fresh Distal Tibial Allograft and Modified T-Plasty Open Capsular Shift. 61
31194075 2019
488
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. 61
29357706 2019
489
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 61
31132235 2019
490
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. 61
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Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. 61
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The erector spinae plane block in a high-risk Ehlers-Danlos syndrome pediatric patient for vascular ring repair. 61
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Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. 61
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Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. 61
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Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. 61
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Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. 61
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Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. 61
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TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts. 61
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A Dual Approach for the Management of Complex Craniovertebral Junction Abnormalities: Endoscopic Endonasal Odontoidectomy and Posterior Decompression with Fusion. 61
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[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes]. 61
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Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. 61
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Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. 61
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Exercise and sports participation in patients with thoracic aortic disease: a review. 61
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Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. 61
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Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome. 61
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Unusual Complicated Fungal Endocarditis in a Patient With Vascular Ehlers-Danlos Syndrome. 61
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Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome. 61
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Treatment of the wide open wound in the Ehlers-Danlos syndrome. 61
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Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate. 61
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