Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

J. Dai, O. H. Kim, T. J. Cho, M. Schmidt-Rimpler, H. Tonoki, K. Takikawa, N. Haga, K. Miyoshi, H. Kitoh, W. J. Yoo, I. H. Choi, H. R. Song, D. K. Jin, H. T. Kim, H. Kamasaki, P. Bianchi, G. Grigelioniene, S. Nampoothiri, M. Minagawa, S. I. MiyagawaT. Fukao, C. Marcelis, M. C.E. Jansweijer, R. C.M. Hennekam, F. Bedeschi, A. Mustonen, Q. Jiang, H. Ohashi, T. Furuichi, S. Unger, B. Zabel, E. Lausch, A. Superti-Furga, G. Nishimura, Shiro Ikegawa

Research output: Contribution to journal › Article › peer-review

52 Citations (Scopus)

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