MCID: STH001
MIFTS: 62

Saethre-Chotzen Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Eye diseases

Aliases & Classifications for Saethre-Chotzen Syndrome

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Aliases & Descriptions for Saethre-Chotzen Syndrome:

Name: Saethre-Chotzen Syndrome 49 10 21 45 22 23 47 12 67 24 65
Saethre-Chotzen Syndrome with Eyelid Anomalies 49 11 24
Acrocephalosyndactyly Type Iii 10 21 22
Acs3 45 23 67
Acrocephaly, Skull Asymmetry, and Mild Syndactyly 45 23
Chotzen Syndrome 45 23
Acs Iii 23 67
Scs 23 67
 
Dysostosis Craniofacialis with Hypertelorism 23
Acrocephalosyndactyly, Type Iii 23
Acrocephalo-Syndactyly, Type 3 45
Acrocephalosyndactyly Type 3 67
Acrocephalosyndactyly Iii 23
Sakati Syndrome 65
Acs 3 45

Characteristics:

HPO:

61
saethre-chotzen syndrome:
Onset and clinical course: variable expressivity
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 101400
Disease Ontology10 DOID:14768
MeSH36 D000168
NCIt42 C75034
UMLS65 C0175699, C1275079

Summaries for Saethre-Chotzen Syndrome

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NIH Rare Diseases:45 Saethre-chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). this early fusion prevents the skull from growing normally and affects the shape of the head and face. the signs and symptoms of saethre-chotzen syndrome vary widely, even among affected individuals in the same family. mutations in the twist1 gene cause saethre-chotzen syndrome. this condition is inherited in an autosomal dominant pattern. in some cases, an affected person inherits the mutation from one affected parent. other cases may result from new mutations in the gene. last updated: 4/22/2009

MalaCards based summary: Saethre-Chotzen Syndrome, also known as saethre-chotzen syndrome with eyelid anomalies, is related to saethre-chotzen syndrome, fgfr2-related and sc phocomelia syndrome, and has symptoms including finger syndactyly, craniosynostosis and facial asymmetry. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways are Central carbon metabolism in cancer and Alzheimers Disease Pathway. Affiliated tissues include skull, bone and breast, and related mouse phenotypes are no phenotypic analysis and vision/eye.

Disease Ontology:10 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull.

UniProtKB/Swiss-Prot:67 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.

Genetics Home Reference:23 Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Description from OMIM:49 101400

GeneReviews summary for NBK1189

Related Diseases for Saethre-Chotzen Syndrome

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Graphical network of the top 20 diseases related to Saethre-Chotzen Syndrome:



Diseases related to saethre-chotzen syndrome

Symptoms for Saethre-Chotzen Syndrome

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Symptoms by clinical synopsis from OMIM:

101400

Clinical features from OMIM:

101400

HPO human phenotypes related to Saethre-Chotzen Syndrome:

(show all 73)
id Description Frequency HPO Source Accession
1 finger syndactyly hallmark (90%) HP:0006101
2 craniosynostosis hallmark (90%) HP:0001363
3 facial asymmetry hallmark (90%) HP:0000324
4 external ear malformation typical (50%) HP:0008572
5 brachydactyly syndrome typical (50%) HP:0001156
6 single transverse palmar crease typical (50%) HP:0000954
7 ptosis typical (50%) HP:0000508
8 strabismus typical (50%) HP:0000486
9 convex nasal ridge typical (50%) HP:0000444
10 atresia of the external auditory canal typical (50%) HP:0000413
11 hypertelorism typical (50%) HP:0000316
12 low anterior hairline typical (50%) HP:0000294
13 cognitive impairment occasional (7.5%) HP:0100543
14 short stature occasional (7.5%) HP:0004322
15 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
16 radioulnar synostosis occasional (7.5%) HP:0002974
17 scoliosis occasional (7.5%) HP:0002650
18 increased intracranial pressure occasional (7.5%) HP:0002516
19 apnea occasional (7.5%) HP:0002104
20 migraine occasional (7.5%) HP:0002076
21 hallux valgus occasional (7.5%) HP:0001822
22 seizures occasional (7.5%) HP:0001250
23 optic atrophy occasional (7.5%) HP:0000648
24 visual impairment occasional (7.5%) HP:0000505
25 sensorineural hearing impairment occasional (7.5%) HP:0000407
26 conductive hearing impairment occasional (7.5%) HP:0000405
27 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
28 cleft palate occasional (7.5%) HP:0000175
29 cryptorchidism occasional (7.5%) HP:0000028
30 abnormality of cardiovascular system morphology HP:0030680
31 flat face HP:0012368
32 cleft of chin HP:0011323
33 absent first metatarsal HP:0010104
34 partial duplication of the distal phalanx of the 3rd finger HP:0009968
35 partial duplication of the distal phalanx of the 2nd finger HP:0009951
36 prominent crus of helix HP:0009899
37 microtia HP:0008551
38 lambdoidal craniosynostosis HP:0004443
39 coronal craniosynostosis HP:0004440
40 flat forehead HP:0004425
41 short stature HP:0004322
42 clinodactyly of the 5th finger HP:0004209
43 long nose HP:0003189
44 breast carcinoma HP:0003002
45 radioulnar synostosis HP:0002974
46 parietal foramina HP:0002697
47 skull asymmetry HP:0002678
48 abnormality of pelvic girdle bone morphology HP:0002644
49 intellectual disability, moderate HP:0002342
50 hallux valgus HP:0001822
51 toe syndactyly HP:0001770
52 plagiocephaly HP:0001357
53 brachydactyly syndrome HP:0001156
54 abnormality of the nasolacrimal system HP:0000614
55 shallow orbits HP:0000586
56 buphthalmos HP:0000557
57 ptosis HP:0000508
58 strabismus HP:0000486
59 narrow nose HP:0000460
60 convex nasal ridge HP:0000444
61 low-set ears HP:0000369
62 hearing impairment HP:0000365
63 high forehead HP:0000348
64 hypoplasia of the maxilla HP:0000327
65 facial asymmetry HP:0000324
66 hypertelorism HP:0000316
67 low anterior hairline HP:0000294
68 malar flattening HP:0000272
69 delayed cranial suture closure HP:0000270
70 oxycephaly HP:0000263
71 brachycephaly HP:0000248
72 narrow palate HP:0000189
73 cleft palate HP:0000175

Drugs & Therapeutics for Saethre-Chotzen Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Saethre-Chotzen Syndrome

Genetic Tests for Saethre-Chotzen Syndrome

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Genetic tests related to Saethre-Chotzen Syndrome:

id Genetic test Affiliating Genes
1 Saethre-Chotzen Syndrome22 TWIST1

Anatomical Context for Saethre-Chotzen Syndrome

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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:

33
Bone, Breast, Heart, Endothelial, T cells, Prostate, Testes

FMA organs/tissues related to Saethre-Chotzen Syndrome:

16
Skull

Animal Models for Saethre-Chotzen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0FGFR1, FGFR2, FGFR3, HAND2, RUNX2, TCF3
2MP:00053918.9FGFR1, FGFR2, FGFR3, MSX2, RECQL4, RUNX2
3MP:00053808.8FGFR1, FGFR2, HAND2, MSX2, RECQL4, TCF3
4MP:00053778.7CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
5MP:00028738.7FGFR1, FGFR2, FGFR3, HAND2, MSX2, TCF3
6MP:00053698.5CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
7MP:00053858.4CBL, FGFR1, FGFR2, HAND2, MSX2, RUNX2
8MP:00053818.3FGFR1, FGFR2, FGFR3, HAND2, MSX2, RECQL4
9MP:00053868.2CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
10MP:00053898.1CASP2, CBL, FGFR1, FGFR2, FGFR3, RUNX2
11MP:00107717.9CBL, FGFR1, FGFR2, FGFR3, MSX2, RECQL4
12MP:00053827.9CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
13MP:00053907.6CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
14MP:00036317.5CASP2, FGFR1, FGFR2, FGFR3, HAND2, MSX2
15MP:00053717.5CBL, FGFR1, FGFR2, FGFR3, HAND2, MSX2
16MP:00053847.2CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
17MP:00053797.0CASP2, CBL, FGFR1, FGFR2, HAND2, MSX2
18MP:00107686.4CASP2, CBL, FGFR1, FGFR2, FGFR3, HAND2
19MP:00053786.2ACSL3, CBL, FGFR1, FGFR2, FGFR3, HAND2
20MP:00053875.9ACSL3, CASP2, CBL, FGFR1, FGFR2, FGFR3
21MP:00053975.8ACSL3, CASP2, CBL, FGFR1, FGFR2, FGFR3

Publications for Saethre-Chotzen Syndrome

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Articles related to Saethre-Chotzen Syndrome:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
External ear anomalies and hearing impairment in Noonan Syndrome. (25862627)
2015
2
A complex of p190RhoGAP-A and anillin modulates RhoA-GTP and the cytokinetic furrow in human cells. (25359885)
2015
3
Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations. (25554686)
2015
4
Association between MTHFR C677T Polymorphism and Risk of Prostate Cancer: Evidence from 22 Studies with 10,832 Cases and 11,993 Controls. (26107198)
2015
5
Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI. (22118778)
2014
6
A case of localized papular mucinosis showing excellent response to cyclophosphamide. (24700950)
2014
7
Recent advances in hereditary angioedema self-administration treatment: summary of an International Hereditary Angioedema Expert Meeting. (23689242)
2013
8
Sleep quality and preclinical Alzheimer disease. (23479184)
2013
9
Knowledge of and attitudes towards HIV/AIDS: a survey among dental students in Ajman, UAE. (24357612)
2013
10
The antiepileptic drug valproic acid restores T cell homeostasis and ameliorates pathogenesis of experimental autoimmune encephalomyelitis. (22733814)
2012
11
APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation. (22180177)
2012
12
Loss of expression of DNA mismatch repair proteins in aberrant crypt foci identified in vivo by magnifying colonoscopy in subjects with hereditary nonpolyposic and sporadic colon rectal cancer. (21744313)
2012
13
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology. (22416979)
2012
14
Analysis of pulse wave velocity in the thoracic aorta by flow-sensitive four-dimensional MRI: reproducibility and correlation with characteristics in patients with aortic atherosclerosis. (22271330)
2012
15
Manifestations of ocular fundus in children with febrile seizures. (20795603)
2011
16
Membrane binding of the N-terminal ubiquitin-like domain of kindlin-2 is crucial for its regulation of integrin activation. (22078565)
2011
17
Cox2 and I^-catenin/T-cell factor signaling intestinalize human esophageal keratinocytes when cultured under organotypic conditions. (21969813)
2011
18
Risk factors for mortality in patients with Mallory-Weiss syndrome. (21661406)
2011
19
Parenteral iron formulations differentially affect MCP-1, HO-1, and NGAL gene expression and renal responses to injury. (20504881)
2010
20
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. (20202874)
2010
21
Radiation dose and screening for vesicoureteral reflux. (20093582)
2010
22
The role of Endothelin-1 in obstructive sleep apnea syndrome and pulmonary arterial hypertension: pathogenesis and Endothelin-1 antagonists. (20156159)
2010
23
Gastroprotective effect of earthworm paste (Lampito mauritii, Kinberg) on experimental gastric ulcer in rats. (20391954)
2010
24
Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability. (19375167)
2009
25
Effects of drospirenone on cardiovascular markers in human aortic endothelial cells. (18979300)
2009
26
Caesarean delivery in a parturient with Holt-Oram syndrome and implantable cardioverter defibrillator: anaesthetic considerations. (19037651)
2009
27
Molecular dissection of human oncostatin M-mediated signal transductions through site-directed mutagenesis. (19148539)
2009
28
The C-terminal sequence of RhoB directs protein degradation through an endo-lysosomal pathway. (19956591)
2009
29
IL-1B-511 C-->T polymorphism is associated with increased host susceptibility to Helicobacter pylori infection in Chinese. (17309751)
2007
30
Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. (17233885)
2007
31
Effect of perindopril on physical function in elderly people with functional impairment: a randomized controlled trial. (17923654)
2007
32
Effect of panax quinquefolius saponin on insulin sensitivity in patients of coronary heart disease with blood glucose abnormality]. (18198636)
2007
33
Discordance between erythrocyte sedimentation rate and C-reactive protein measurements: clinical significance. (18078625)
2007
34
Social disadvantage and cardiovascular disease: development of an index and analysis of age, sex, and ethnicity effects. (16926215)
2006
35
Metastasis tumor antigen family proteins during breast cancer progression and metastasis in a reliable mouse model for human breast cancer. (16533771)
2006
36
Stunning and its effect on 3H-FDG uptake and key gene expression in breast cancer cells undergoing chemotherapy. (16595493)
2006
37
Heparanase degrades syndecan-1 and perlecan heparan sulfate: functional implications for tumor cell invasion. (14630925)
2004
38
Role of human hepatic cytochrome P-450s in territrem A metabolism. (12851121)
2003
39
Estrogen replacement therapy modulation of the insulin-like growth factor system in monkey knee joints. (10524681)
1999
40
Detection and expression of corticosteroid binding protein gene in human pathogenic fungi. (10353207)
1998-1999
41
An endodermal sinus tumor arising from a mature cystic teratoma in the retroperitoneum in a child: is a mature teratoma a premalignant condition? (9781660)
1998
42
A HhaI/BstUI polymorphism in a novel gene at human chromosome 11p15.5. (9852686)
1998
43
Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene. (9228243)
1997
44
Inhibition of murine renal carcinoma pulmonary metastases by systemic administration of interferon gamma: mechanism of action and potential for combination with interleukin 4. (9815566)
1997
45
Cold activation of complement in sera from patients with persistent hepatitis C virus infection on interferon therapy. (8713700)
1996
46
Permanent carotid artery occlusion should not be performed using fibered coils without proximal flow arrest. (8951766)
1996
47
Discovery of a distinct binding site for angiotensin II (3-8), a putative angiotensin IV receptor. (1438983)
1992
48
Effects of transdermal 17 beta-estradiol treatment and naloxone infusion on gonadotropin response to gonadotropin-releasing hormone in postmenopausal women. (2105330)
1990
49
Splenic artery aneurysm. A rare cause of upper gastrointestinal bleeding. (2393195)
1990
50
Antithrombin III deficiency in Nigerian sicklers--possible predisposition to thrombotic crises. (6545202)
1984

Variations for Saethre-Chotzen Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:

67
id Symbol AA change Variation ID SNP ID
1TWIST1p.Gln119ProVAR_004495
2TWIST1p.Leu131ProVAR_004496
3TWIST1p.Ile156ValVAR_015219

Clinvar genetic disease variations for Saethre-Chotzen Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2FGFR2, VAL-VAL DELdeletionPathogenic
2FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
3TWIST1NM_000474.3(TWIST1): c.308dupA (p.Tyr103Terfs)duplicationPathogenicrs121909186GRCh37Chr 7, 19156637: 19156637
4TWIST1NM_000474.3(TWIST1): c.356A> C (p.Gln119Pro)single nucleotide variantPathogenicrs104894057GRCh37Chr 7, 19156589: 19156589
5TWIST1NM_000474.3(TWIST1): c.309C> A (p.Tyr103Ter)single nucleotide variantPathogenicrs104894054GRCh37Chr 7, 19156636: 19156636
6TWIST1NM_000474.3(TWIST1): c.368C> A (p.Ser123Ter)single nucleotide variantPathogenicrs121909187GRCh37Chr 7, 19156577: 19156577
7TWIST1NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter)single nucleotide variantPathogenicrs121909188GRCh37Chr 7, 19156569: 19156569
8TWIST1NM_000474.3(TWIST1): c.392T> C (p.Leu131Pro)single nucleotide variantPathogenicrs121909189GRCh37Chr 7, 19156553: 19156553
9TWIST1TWIST1, 21-BP DUPduplicationPathogenic
10TWIST1NM_000474.3(TWIST1): c.541G> T (p.Glu181Ter)single nucleotide variantPathogenicrs104894058GRCh37Chr 7, 19156404: 19156404
11TWIST1NM_000474.3(TWIST1): c.466A> G (p.Ile156Val)single nucleotide variantPathogenicrs104894059GRCh37Chr 7, 19156479: 19156479

Expression for genes affiliated with Saethre-Chotzen Syndrome

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Search GEO for disease gene expression data for Saethre-Chotzen Syndrome.

Pathways for genes affiliated with Saethre-Chotzen Syndrome

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Pathways related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR1, FGFR2, FGFR3
29.7FGFR1, FGFR2, FGFR3
39.7FGFR1, FGFR2, FGFR3
4
Show member pathways
9.7FGFR1, FGFR2, FGFR3
59.7FGFR1, FGFR3, RUNX2
6
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
7
Show member pathways
9.4CBL, FGFR1, FGFR2, FGFR3
89.3CBL, FGFR1, FGFR2, RUNX2
99.3RUNX2, TCF3, TWIST1
109.3CBL, FGFR1, TWIST1, TWIST2
119.2FGFR1, FGFR2, FGFR3, MSX2, TWIST1
129.1FGFR1, FGFR2, FGFR3, TCF3
13
Show member pathways
8.2CASP2, FGFR1, FGFR2, FGFR3, TCF12, TCF3

GO Terms for genes affiliated with Saethre-Chotzen Syndrome

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Biological processes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1endochondral bone growthGO:000341610.7FGFR3, MSX2
2cardiac neural crest cell development involved in outflow tract morphogenesisGO:006130910.7HAND2, TWIST1
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.7FGFR1, FGFR2
4lung-associated mesenchyme developmentGO:006048410.6FGFR1, FGFR2
5regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.6FGFR2, RUNX2
6endochondral ossificationGO:000195810.6FGFR3, RUNX2
7embryonic hindlimb morphogenesisGO:003511610.5MSX2, TWIST1
8positive regulation of cell cycleGO:004578710.5FGFR1, FGFR2
9positive regulation of mesenchymal cell proliferationGO:000205310.5FGFR1, FGFR2
10stem cell differentiationGO:004886310.5MSX2, RUNX2
11positive regulation of cardiac muscle cell proliferationGO:006004510.5FGFR1, FGFR2
12negative regulation of osteoblast differentiationGO:004566810.4TWIST1, TWIST2
13branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
14positive regulation of phospholipase activityGO:001051810.3FGFR1, FGFR2, FGFR3
15embryonic forelimb morphogenesisGO:003511510.3MSX2, TWIST1
16regulation of phosphatidylinositol 3-kinase signalingGO:001406610.3FGFR1, FGFR2, FGFR3
17phosphatidylinositol-mediated signalingGO:004801510.3FGFR1, FGFR2, FGFR3
18embryonic digit morphogenesisGO:004273310.3HAND2, MSX2, TWIST1
19phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR1, FGFR2, FGFR3
20odontogenesisGO:004247610.2FGFR2, MSX2, TWIST1
21chondrocyte developmentGO:000206310.2MSX2, RUNX2
22bone mineralizationGO:003028210.2FGFR2, FGFR3
23embryonic cranial skeleton morphogenesisGO:004870110.2FGFR2, RUNX2, TWIST1
24skeletal system morphogenesisGO:004870510.1FGFR1, FGFR2, RUNX2
25protein autophosphorylationGO:004677710.1FGFR1, FGFR2, FGFR3
26ossificationGO:000150310.0MSX2, RUNX2, TWIST1
27Ras protein signal transductionGO:000726510.0FGFR1, FGFR2, FGFR3
28bone morphogenesisGO:006034910.0FGFR2, FGFR3, MSX2
29orbitofrontal cortex developmentGO:002176910.0FGFR1, FGFR2
30epidermal growth factor receptor signaling pathwayGO:00071739.9CBL, FGFR1, FGFR2, FGFR3
31embryonic limb morphogenesisGO:00303269.6FGFR1, MSX2, TWIST1
32negative regulation of transcription, DNA-templatedGO:00458929.5MSX2, RUNX2, TWIST1, TWIST2
33negative regulation of transcription from RNA polymerase II promoterGO:00001229.0FGFR1, FGFR2, MSX2, TCF3, TWIST1
34neurotrophin TRK receptor signaling pathwayGO:00480119.0CASP2, FGFR1, FGFR2, FGFR3
35positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FGFR2, RUNX2, TCF12, TCF3, TWIST1

Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.6FGFR2, FGFR3
2protein tyrosine kinase activityGO:000471310.0FGFR1, FGFR2, FGFR3
3E-box bindingGO:00708889.9TCF12, TCF3
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7MSX2, RUNX2, TCF3
5transcription factor activity, sequence-specific DNA bindingGO:00037009.0RUNX2, TCF12, TCF3
6protein homodimerization activityGO:00428038.8FGFR1, FGFR2, TCF12, TCF3
7transcription regulatory region DNA bindingGO:00442128.8HAND2, MSX2, RUNX2, TCF12, TCF3

Sources for Saethre-Chotzen Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet