GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a co...

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Hlavní autoři: Dawson, Katherine, Seeman, Petra, Sebald, Eiman, King, Lily, Edwards, Matthew, Williams III, John, Mundlos, Stephan, Krakow, Deborah
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424701/
https://ncbi.nlm.nih.gov/pubmed/16532400
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