Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Bertrand Coste(Centre National de la Recherche Scientifique), Ardem Patapoutian(Howard Hughes Medical Institute), Heidi L. Rehm(Broad Institute), James J. Cox(University College London), Jayanti Mathur(Genomics Institute of the Novartis Research Foundation), Gunnar Riemer(Sunnaas sykehus), Alexander Hoischen(Radboud University Nijmegen), Monica A. Giovanni(Brigham and Women's Hospital), Nathan O. Stitziel(James S. McDonnell Foundation), Scott T. Weiss(Brigham and Women's Hospital), Gunnar Houge(Haukeland University Hospital), Matthew S. Lebo(Brigham and Women's Hospital), Unni Steen(Sunnaas sykehus), John N. Wood(University College London), Michael F. Murray(Brigham and Women's Hospital), Vidar M. Steen(Haukeland University Hospital), Richard L. Maas(Brigham and Women's Hospital), Michael Bandell(Genomics Institute of the Novartis Research Foundation), Shamil R. Sunyaev(Brigham and Women's Hospital), Anthony Philippakis(Broad Institute)
Proceedings of the National Academy of Sciences
March 4, 2013
Cited by 235


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