Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia by 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 in Nature genetics (2008).

[PMID: 18587396] PubMed

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