M. Schmidt‐Rimpler

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

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

R. Hennekam, H. Tonoki, R. Hennekam, 2010, Journal of Medical Genetics.