De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Titel:
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Auteur:
Chong, Jessica X. McMillin, Margaret J. Shively, Kathryn M. Beck, Anita E. Marvin, Colby T. Armenteros, Jose R. Buckingham, Kati J. Nkinsi, Naomi T. Boyle, Evan A. Berry, Margaret N. Bocian, Maureen Foulds, Nicola Uzielli, Maria Luisa Giovannucci Haldeman-Englert, Chad Hennekam, Raoul C.M. Kaplan, Paige Kline, Antonie D. Mercer, Catherine L. Nowaczyk, Malgorzata J.M. Klein Wassink-Ruiter, Jolien S. McPherson, Elizabeth W. Moreno, Regina A. Scheuerle, Angela E. Shashi, Vandana Stevens, Cathy A. Carey, John C. Monteil, Arnaud Lory, Philippe Tabor, Holly K. Smith, Joshua D. Shendure, Jay Nickerson, Deborah A. Bamshad, Michael J.