@misc{indiciaeeffa0e890a98, title = {De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay}, author = {Jessica X Chong and Margaret J McMillin and Kathryn M Shively and Anita E Beck and Colby T Marvin and Jose R Armenteros and Kati J Buckingham and Naomi T Nkinsi and Evan A Boyle and Margaret N Berry and Maureen Bocian and Nicola Foulds and Maria Luisa Giovannucci Uzielli and Chad Haldeman-Englert and Raoul CM Hennekam and Paige Kaplan and Antonie D Kline and Catherine L Mercer and Malgorzata JM Nowaczyk and Jolien S Klein Wassink-Ruiter and Elizabeth W McPherson and Regina A Moreno and Angela E Scheuerle and Vandana Shashi and Cathy A Stevens and John C Carey and Arnaud Monteil and Philippe Lory and Holly K Tabor and Joshua D Smith and Jay Shendure and Deborah A Nickerson and Michael J Bamshad}, year = {2015}, doi = {10.1101/013656}, url = {https://www.biorxiv.org/content/10.1101/013656v1}, note = {Source identifier: 10.1101/013656} }