Novel and recurrent <i>TRPV4</i> mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
Jin Dai(Nanjing Drum Tower Hospital), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Won Joon Yoo(Seoul National University Children's Hospital), Hotaka Kamasaki(Sapporo Medical University), Andrea Superti‐Furga(University of Lausanne), H. T. Kim(Pusan National University Hospital), Sheela Nampoothiri(Amrita Institute of Medical Sciences and Research Centre), Gen Nishimura(Musashino University), Carlo Marcelis(Radboud University Nijmegen), K. Miyoshi(Yokohama Rosai Hospital), Giedré Grigelioniené(Karolinska University Hospital), Hiroshi Kitoh(Nagoya University), Tatsuya Furuichi(Iwate University), Qing Jiang(Nanchang University), Nobuhiko Haga(Boston Children's Hospital), Bernhard Zabel(Johannes Gutenberg University Mainz), Paola Bianchi(University of Pavia), Sheila Unger(University of Lausanne), Kazuharu Takikawa(Shizuoka Children's Hospital), Aki Mustonen(University of Oulu), Maren Schmidt‐Rimpler(University of Freiburg), F. Bedeschi(Ospedale Maggiore), Masahiro Minagawa, Ekkehart Lausch(University Medical Center Freiburg), In Ho Choi(Seoul National University Children's Hospital), H. Tonoki(Tenshi Hospital), M. C. E. Jansweijer(Amsterdam UMC Location University of Amsterdam), Toshiyuki Fukao(Gifu University Hospital), R Hennekam(Amsterdam UMC Location University of Amsterdam), Hirofumi Ohashi(Aichi Medical University)
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