RTS
MCID: RTH001
MIFTS: 68

Rothmund-Thomson Syndrome (RTS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Rothmund-Thomson Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Rothmund thomson syndrome is a genetic condition that affects many parts of the body. it is characterized by distinctive abnormalities of the skin; sparse hair, eyelashes and/or eyebrows; small stature; skeletal and dental abnormalities; and an increased risk of developing osteosarcoma, a cancer of the bone. rothmund thomson syndrome is inherited in an autosomal recessive pattern. mutations in the recql4 gene cause about two-thirds of all cases. in the other one-third of cases, the cause is unknown. last updated: 1/25/2012

MalaCards: Rothmund-Thomson Syndrome, also known as rothmund thomson syndrome, is related to osteosarcoma and poikiloderma with neutropenia, and has symptoms including adrenal glands anomalies, skin hypoplasia/aplasia/atrophy and sarcoma. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways are Regulation of Telomerase and BRCA1 Pathway. The compounds 8-hydroxyadenine and dttp have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are embryogenesis and mortality/aging.

Genetics Home Reference:21 Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.

Wikipedia:65 Rothmund?Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

Description from OMIM:47 268400

GeneReviews summary for rts

Aliases & Classifications for Rothmund-Thomson Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
rothmund-thomson syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rothmund-thomson syndrome 8 9 19 21 47 10 45 49 62
rothmund thomson syndrome 43 20 22
rts 8 21 49
poikiloderma atrophicans and cataract 43 21
poikiloderma of rothmund-thomson 43 49
poikiloderma congenitale 43 21
congenital poikiloderma 8 21
poikiloderma congenitale of rothmund-thomson 21
erythrokeratodermia variabilis 62


External Ids:

Disease Ontology8 DOID:2732
MeSH35 D011038
OMIM47 268400
NCIt40 C3335
MESH via Orphanet36 D011038
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet59 69093006
UMLS via Orphanet63 C0032339

Related Diseases for Rothmund-Thomson Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Rothmund-Thomson Syndrome family:

Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2

Diseases related to Rothmund-Thomson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 293)
idRelated DiseaseScoreTop Affiliating Genes
1osteosarcoma31.2RECQL4, WRN, TYMS
2poikiloderma with neutropenia30.8USB1
3neutropenia30.6RECQL4, TYMS
4werner syndrome30.5BLM, WRN, HELLS, RECQL4, RECQL, RECQL5
5cataract30.5RECQL4, WRN
6baller-gerold syndrome30.5RECQL5, RECQL, RECQL4
7bloom syndrome30.3BLM, WRN, HELLS, RECQL4, RECQL, RECQL5
8ataxia telangiectasia29.7BLM, WRN, HELLS
9breast cancer10.7
10leukemia10.7
11prostatitis10.5
12sarcoma10.5
13prostate cancer10.5
14thyroiditis10.5
15colorectal cancer10.5
16myeloid leukemia10.5
17calcinosis10.4
18esophagitis10.4
19glomerulonephritis10.4
20dwarfism10.4
21rothmund-thomson syndrome type 110.4
22rothmund-thomson syndrome type 210.4
23hepatitis10.4
24peritonitis10.4
25acute myeloid leukemia10.4
26adenocarcinoma10.3
27colon cancer10.3
28lung cancer10.3
29endotheliitis10.3
30influenza10.3
31acute promyelocytic leukemia10.3
32newcastle disease10.3
33neuroblastoma10.3
34scleroderma10.3
35linear scleroderma10.3
36dyskeratosis congenita10.3
37bronchiectasis10.3
38muscular atrophy10.3
39klippel-feil syndrome10.3
40nasopharyngitis10.3
41duodenitis10.3
42amelanotic melanoma10.3
43fibrous histiocytoma10.3
44hypohidrosis10.3
45anhidrosis10.3
46porokeratosis10.3
47alopecia10.3
48aplastic anemia10.3
49encephalitis10.3
50glaucoma10.3

Graphical network of the top 20 diseases related to Rothmund-Thomson Syndrome:



Diseases related to rothmund-thomson syndrome

Symptoms for Rothmund-Thomson Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

268400

Clinical features from OMIM:

268400

Symptoms:

49 (show all 75)
  • adrenal glands anomalies
  • skin hypoplasia/aplasia/atrophy
  • sarcoma
  • craniostenosis/craniosynostosis/sutural synostosis
  • deepset eyes/enophthalmos
  • anodontia/oligodontia/hypodontia
  • cleft lip and palate
  • external ear anomalies
  • neoplasms/tumors
  • glaucoma
  • face/facial anomalies
  • short philtrum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • premature greying of hair
  • anomalies of eyelids, eyelashes and lacrimal system
  • polynuclear cells/neutrophils anomalies/neutropenia
  • joint dislocation/subluxation
  • thumb hypoplasia/aplasia/absence
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • telangiectasic erythema/poikiloderma
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • anomalies of nose and olfaction
  • patella absent/abnormal (excluding luxation)
  • bronchial dilation/dilatation/bronchiectasia
  • cutis marmorata/marbled skin/livedo
  • abnormal fingernails
  • sacro-coccyx/sacrum anomaly
  • keratoconus/keratoglobus
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • hair and scalp anomalies
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • absent/decreased/thin eyebrows
  • gastric/pyloric stenosis
  • arthrogryposis
  • myelodysplastic syndrome
  • irregular/patchy skin hypopigmentation
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anomalies of teeth and dentition
  • multiple caries
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • malabsorption/chronic diarrhea/steatorrhea
  • anomalies of bones/skeletal anomalies
  • corneal clouding/opacity/vascularisation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hypertelorism
  • autosomal recessive inheritance
  • scoliosis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • chronic arterial hypertension
  • restricted joint mobility/joint stiffness/ankylosis
  • sensorineural deafness/hearing loss
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • irregular/in bands/reticular skin hyperpigmentation
  • skin photosensitivity
  • epicanthic folds
  • hyperextensible joints/articular hyperlaxity
  • anaemia
  • metacarpal anomalies/archibald's sign
  • short stature/dwarfism/nanism
  • microcephaly
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • renal disease/nephropathy
  • late puberty/hypogonadism/hypogenitalism
  • brachycephaly/flat occiput
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Rothmund-Thomson Syndrome

Search NIH Clinical Center for Rothmund-Thomson Syndrome

Genetic Tests for Rothmund-Thomson Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Rothmund-Thomson Syndrome:

id Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome20 22 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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33MalaCards
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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

33
Skin, Bone, Eye, Adrenal gland, Tongue, Pancreas

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.9BLM, MCM10, HELLS, RECQL4, CDC45
2MP:00107687.9CDC45, RECQL4, HELLS, MCM10, WRN, BLM
3MP:00053846.9CDC45, BLM, WRN, MCM10, HELLS, RECQL4

Publications for Rothmund-Thomson Syndrome

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Sources:
52PubMed
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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
2
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
3
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
4
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
5
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
6
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
7
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
8
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
9
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
10
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
11
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
12
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. (16271439)
2006
13
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
14
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. (15897384)
2005
15
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
16
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
17
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
18
Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. (11979727)
2002
19
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
20
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. (11045594)
2000
21
Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with Rothmund-Thomson syndrome. (10632020)
2000
22
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
23
Excision repair defect in Rothmund Thomson syndrome. (10228638)
1999
24
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. (9679749)
1998
25
Photosensitivity and the Rothmund-Thomson syndrome. (9990387)
1998
26
Increased susceptibility to apoptosis induced by anti-Fas antibody in a Rothmund-Thomson syndrome lymphoblastoid cell line. (9625528)
1998
27
A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract. (9568421)
1998
28
Treatment of the cutaneous vascular component of the Rothmund-Thomson syndrome. (9122083)
1996
29
Rothmund-Thomson syndrome and osteosarcoma. (8614379)
1996
30
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (8950673)
1996
31
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
32
Ocular abnormalities in a patient with Rothmund-Thomson syndrome. (7629671)
1995
33
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. (7966195)
1994
34
Rothmund-Thomson syndrome with osteosarcoma. (8436644)
1993
35
Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. (8346112)
1993
36
A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. (8447670)
1993
37
Rothmund-Thomson Syndrome (20301415)
1993
38
Rothmund-Thomson syndrome: review of the world literature. (1430398)
1992
39
"Isolated" radial ray defect may be due to Rothmund-Thomson syndrome. (2268978)
1990
40
"New" syndrome with telangiectasia, dwarfism, and spondyloepiphyseal dysplasia may be Rothmund-Thomson syndrome. (2343014)
1990
41
The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution. (2533569)
1989
42
Rothmund-Thomson syndrome: a case report. (2616389)
1989
43
Duplicate reporting of patients with Rothmund-Thomson syndrome. (2491736)
1989
44
Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). (3676086)
1987
45
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. (7029321)
1981
46
Osteosarcoma in a boy with Rothmund-Thomson syndrome. (6932639)
1980
47
Rothmund-Thomson syndrome: a case report. (7447817)
1980
48
Rothmund-Thomson syndrome: an oculocutaneous disorder. (5902033)
1966
49
Rothmund-Thomson syndrome. (5841581)
1965
50
Poikiloderma congenitale; Rothmund-Thomson syndrome. (14438710)
1959

Variations for Rothmund-Thomson Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Rothmund-Thomson Syndrome:

1 (show all 22)
id Gene Name Type Significance SNP ID Assembly Location
1GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)single nucleotide variantPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
2GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)single nucleotide variantPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
3GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)single nucleotide variantPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
4GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
5GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)single nucleotide variantPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
6GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)single nucleotide variantPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
7RECQL4RECQL4, 7-BP DEL, NT1650deletionPathogenic
8RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
9RECQL4RECQL4, 2-BP DEL, NT2492deletionPathogenic
10RECQL4RECQL4, IVS12AS, G-T, -1single nucleotide variantPathogenic
11RECQL4RECQL4, 1-BP DEL, 1573TdeletionPathogenic
12RECQL4RECQL4, IVS7AS, G-Asingle nucleotide variantPathogenic
13RECQL4RECQL4, 1-BP DEL, 1473TdeletionPathogenic
14RECQL4RECQL4, IVS12AS, G-C, -1single nucleotide variantPathogenic
15RECQL4RECQL4, 1-BP DEL, 2886TdeletionPathogenic
16RECQL4RECQL4, 6-BP DEL, NT1919deletionPathogenic
17RECQL4RECQL4, IVS10DS, G-A, +1single nucleotide variantPathogenic
18GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
19GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
20GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)single nucleotide variantPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
21GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)single nucleotide variantPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
22GJB3NM_024009.2(GJB3): c.101T> C (p.Leu34Pro)single nucleotide variantPathogenicrs28937583GRCh37Chr 1, 35250464: 35250464

Expression for genes affiliated with Rothmund-Thomson Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rothmund-Thomson Syndrome

Search GEO for disease gene expression data for Rothmund-Thomson Syndrome.

Pathways for genes affiliated with Rothmund-Thomson Syndrome

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Sources:
50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology
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Compounds for genes affiliated with Rothmund-Thomson Syndrome

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45Novoseek, 61Tocris Bioscience, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR
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Compounds related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine459.8HELLS, WRN
2dttp459.7HELLS, TYMS
38-oxoguanine459.7HELLS, WRN
4camptothecin45 61 1111.7TYMS, BLM, WRN
5purine45 2410.6HELLS, TYMS
6methylmethanesulfonate459.5HELLS, WRN, BLM
7irinotecan45 51 1111.5WRN, TYMS
8cisplatin45 51 61 1112.2HELLS, WRN, TYMS
9hydroxyurea45 51 1110.9RECQL4, HELLS, WRN, BLM, TYMS
10atp45 299.9BLM, WRN, HELLS, RECQL
11magnesium45 24 1110.3BLM, WRN, HELLS, RECQL, ENOSF1

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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16Gene Ontology
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Cellular components related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057308.0TYMS, BLM, WRN, MCM10, RECQL, RECQL5
2nucleoplasmGO:0056547.9TYMS, WRN, MCM10, RECQL5, CDC45
3cytoplasmGO:0057377.9CDC45, RECQL5, RECQL4, MCM10, BLM, TYMS
4nucleusGO:0056346.6CDC45, TYMS, BLM, USB1, MCM10, HELLS

Biological processes related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:03129710.0WRN, BLM
2DNA strand renaturationGO:0007339.6BLM, RECQL4, RECQL
3DNA metabolic processGO:0062599.6RECQL5, WRN
4telomere maintenanceGO:0007239.6BLM, WRN
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.5CDC45, TYMS
6G1/S transition of mitotic cell cycleGO:0000829.1TYMS, MCM10, CDC45
7mitotic cell cycleGO:0002789.0CDC45, MCM10, TYMS
8DNA duplex unwindingGO:0325088.9BLM, WRN, RECQL4, RECQL, RECQL5
9DNA recombinationGO:0063108.9RECQL5, RECQL, RECQL4, WRN, BLM
10DNA repairGO:0062818.8RECQL5, RECQL, RECQL4, BLM, TYMS
11DNA replicationGO:0062607.8CDC45, RECQL5, RECQL, RECQL4, MCM10, WRN

Molecular functions related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:0093789.9WRN, BLM
2bubble DNA bindingGO:0004059.8RECQL4, WRN, BLM
3G-quadruplex DNA bindingGO:0518809.8WRN, BLM
4ATP-dependent helicase activityGO:0080269.7RECQL5, BLM
5annealing helicase activityGO:0363109.6BLM, RECQL4, RECQL
6ATP-dependent DNA helicase activityGO:0040039.6BLM, WRN, RECQL
7DNA helicase activityGO:0036789.5RECQL5, RECQL, WRN
8ATP-dependent 3-5 DNA helicase activityGO:0431409.4RECQL, RECQL4, WRN, BLM
9helicase activityGO:0043869.3BLM, WRN, HELLS
10ATP bindingGO:0055247.9BLM, WRN, HELLS, RECQL4, RECQL, RECQL5

Products for genes affiliated with Rothmund-Thomson Syndrome

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Sources for Rothmund-Thomson Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet