Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ; Prenen J; Funari VA; Funari TL; Merriman B; Nelson SF; Lachman RS; Wilcox WR; Reyno S; Quadrelli R; Vaglio A; Owsianik G; Janssens A; Voets T; Ikegawa S; Nagai T; Rimoin DL; Nilius B; Cohn DH; Nature Genetics, 2008, vol. 40, issue 8, p 999, ISSN 15461718. ISBN 15461718.

Full Text Resources Located for this Citation

View article on EBSCOhost(Login required)
View article via CrossRef