Open AccessMutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
Author(s) -
Margaret J. McMillin,
Anita E. Beck,
Jessica X. Chong,
Kathryn M. Shively,
Kati J. Buckingham,
Heidi Gildersleeve,
Mariana Aracena,
Arthur S. Aylsworth,
Pierre Bitoun,
John C. Carey,
Carol L. Clericuzio,
Yanick J. Crow,
Cynthia J. Curry,
Koenraad Devriendt,
David B. Everman,
Alan Fryer,
Kate Gibson,
Maria Luisa Giovannucci Uzielli,
John M. Graham,
Judith G. Hall,
Jacqueline T. Hecht,
Randall A. Heidenreich,
Jane A. Hurst,
Sarosh R. Irani,
Ingrid P.C. Krapels,
Jules G. Leroy,
David Mowat,
Gordon T. Plant,
Stephen P. Robertson,
Elizabeth K. Schorry,
Richard H. Scott,
Laurie H. Seaver,
Elliott H. Sherr,
Miranda Splitt,
Helen Stewart,
Constance T. R. M. Stumpel,
Şehime Gülsün Temel,
David D. Weaver,
Margo Whiteford,
Marc S. Williams,
Holly K. Tabor,
Joshua D. Smith,
Jay Shendure,
Deborah A. Nickerson,
Michael J. Bamshad
Publication year - 2014
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/x8dg-7b55
Subject(s) - arthrogryposis , sanger sequencing , exome sequencing , genetics , biology , medicine , phenotype , mutation , gene
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