Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature(1). Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1–12q24.2. Among the genes in the genet...

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Hlavní autoři: Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3525077/
https://ncbi.nlm.nih.gov/pubmed/18587396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.166
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