De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
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author: Evan A Boyle, Jessica X. Chong, Jay Shendure, University of Washington Center for Mendelian Genomics, Arnaud Monteil, Deborah A Nickerson, Raoul Hennekam, Malgorzata J. M. Nowaczyk, Michael J Bamshad, Kati J Buckingham, Anita E Beck, Holly K Tabor, Maria Luisa Giovannucci Uzielli, Colby T Marvin, Naomi T Nkinsi, Margaret E. Berry, Maureen Bocian, Nicola Foulds, Chad Haldeman-Englert, Paige Kaplan, Antonie Kline, Jolien S Klein Wassink-Ruiter, Elizabeth McPherson, Angela E Scheuerle, Vandana Shashi, Cathy A. Stevens, Philippe Lory
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