De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay-Reference-Cited by-同舟云学术

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

Published:2015-03 Issue:3 Volume:96 Page:462-473
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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.,Bamshad Michael J.,Shendure Jay,Nickerson Deborah A.,Abecasis Gonçalo R.,Anderson Peter,Blue Elizabeth Marchani,Annable Marcus,Browning Brian L.,Buckingham Kati J.,Chen Christina,Chin Jennifer,Chong Jessica X.,Cooper Gregory M.,Davis Colleen P.,Frazar Christopher,Harrell Tanya M.,He Zongxiao,Jain Preti,Jarvik Gail P.,Jimenez Guillaume,Johanson Eric,Jun Goo,Kircher Martin,Kolar Tom,Krauter Stephanie A.,Krumm Niklas,Leal Suzanne M.,Luksic Daniel,Marvin Colby T.,McMillin Margaret J.,McGee Sean,O’Reilly Patrick,Paeper Bryan,Patterson Karynne,Perez Marcos,Phillips Sam W.,Pijoan Jessica,Poel Christa,Reinier Frederic,Robertson Peggy D.,Santos-Cortez Regie,Shaffer Tristan,Shephard Cindy,Shively Kathryn M.,Siegel Deborah L.,Smith Joshua D.,Staples Jeffrey C.,Tabor Holly K.,Tackett Monica,Underwood Jason G.,Wegener Marc,Wang Gao,Wheeler Marsha M.,Yi Qian

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference48 articles.

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