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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Bibliografiske detaljer
Main Authors:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	2008
Fag:	Article
Online adgang:	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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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

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