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rdf:type |
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lifeskim:mentions |
umls-concept:C0012634,
umls-concept:C0026882,
umls-concept:C0039075,
umls-concept:C0079183,
umls-concept:C0086282,
umls-concept:C0423113,
umls-concept:C1524003,
umls-concept:C1825117,
umls-concept:C1847879,
umls-concept:C1859756,
umls-concept:C1880022
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pubmed:issue |
3
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pubmed:dateCreated |
2008-2-28
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pubmed:abstractText |
We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
|
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:BöhmDetlefD,
pubmed-author:BöhmJohannJ,
pubmed-author:BarrionuevoFranciscoF,
pubmed-author:BartholdiDeborahD,
pubmed-author:BorowskiKristiK,
pubmed-author:BorozdinWiktorW,
pubmed-author:BuitingKarinK,
pubmed-author:BurfeindPeterP,
pubmed-author:CraigAlexanderA,
pubmed-author:KaiserFrank JFJ,
pubmed-author:KaulfussSilkeS,
pubmed-author:Keppler-NoreuilKimK,
pubmed-author:KohlhaseJürgenJ,
pubmed-author:LemkeJohannesJ,
pubmed-author:MortierGeertG,
pubmed-author:SandfordRichardR,
pubmed-author:Schmitt-MechelkeThomasT,
pubmed-author:SteinerBernhardB,
pubmed-author:Superti-FurgaAndreaA,
pubmed-author:UngerSheilaS,
pubmed-author:ZabelBernhardB
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pubmed:issnType |
Electronic
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|
pubmed:volume |
40
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
287-9
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pubmed:meshHeading |
pubmed-meshheading:18297069-Anal Canal,
pubmed-meshheading:18297069-Cells, Cultured,
pubmed-meshheading:18297069-Cyclins,
pubmed-meshheading:18297069-DNA Mutational Analysis,
pubmed-meshheading:18297069-Facial Asymmetry,
pubmed-meshheading:18297069-Female,
pubmed-meshheading:18297069-Genes, Dominant,
pubmed-meshheading:18297069-Genes, X-Linked,
pubmed-meshheading:18297069-Humans,
pubmed-meshheading:18297069-Infant,
pubmed-meshheading:18297069-Kidney,
pubmed-meshheading:18297069-Point Mutation,
pubmed-meshheading:18297069-Syndactyly,
pubmed-meshheading:18297069-Urogenital Abnormalities
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pubmed:year |
2008
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|
pubmed:articleTitle |
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
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pubmed:affiliation |
Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
