De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong(University of Washington), Margaret J. McMillin(University of Washington), Kathryn M. Shively(University of Washington), Anita E. Beck(University of Washington), Colby T. Marvin(University of Washington), Jose R. Armenteros(University of Washington), Kati J. Buckingham(University of Washington), Naomi T. Nkinsi(University of Washington), Evan A. Boyle(University of Washington), Margaret N. Berry(Wake Forest University), Maureen Bocian(University of California, Irvine), Nicola Foulds(University Hospital Southampton NHS Foundation Trust), Maria Luisa Giovannucci Uzielli(University of Florence), Chad Haldeman‐Englert(Wake Forest University), Raoul C.M. Hennekam(Amsterdam UMC Location University of Amsterdam), Paige Kaplan(Children's Hospital of Philadelphia), Antonie D. Kline(Greater Baltimore Medical Center), Catherine L. Mercer(University Hospital Southampton NHS Foundation Trust), Małgorzata J.M. Nowaczyk(McMaster University), Jolien S. Klein Wassink‐Ruiter(University Medical Center Groningen), Elizabeth W. McPherson(Marshfield Clinic), Regina A. Moreno(Universidad de La Frontera), Angela E. Scheuerle(The University of Texas Southwestern Medical Center), Vandana Shashi(Duke Medical Center), Cathy A. Stevens(University of Tennessee at Chattanooga), John C. Carey(University of Utah), Arnaud Monteil(Inserm), Philippe Lory(Inserm), Holly K. Tabor(Seattle Children's Hospital), Joshua D. Smith(University of Washington), Jay Shendure(University of Washington), Deborah A. Nickerson(University of Washington), Michael J. Bamshad(University of Washington), Michael J. Bamshad(University of Washington), Jay Shendure(University of Washington), Deborah A. Nickerson(University of Washington), Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning(University of Washington), Kati J. Buckingham(University of Washington), Christina Chen, Jennifer Chin(University of Washington), Jessica X. Chong(University of Washington), Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell(University of Washington), Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic(University of Washington), Colby T. Marvin(University of Washington), Margaret J. McMillin(University of Washington), Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips(University of Washington), Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard(University of Washington), Kathryn M. Shively(University of Washington), Deborah L. Siegel(University of Washington), Joshua D. Smith(University of Washington), Jeffrey Staples(Seattle Children's Hospital), Holly K. Tabor(Seattle Children's Hospital), Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian
The American Journal of Human Genetics
February 12, 2015
Cited by 157Open Access
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