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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| Description | scientific article |
| Author/s |
author: Kati J Buckingham Maria Luisa Giovannucci Uzielli Colby T Marvin Jolien S Klein Wassink-Ruiter Chad Haldeman-Englert Nicola Foulds Jessica X. Chong Michael J Bamshad Philippe Lory Evan A Boyle Holly K Tabor Anita E Beck Naomi T Nkinsi Angela E Scheuerle Deborah A Nickerson Vandana Shashi Cathy A. Stevens Elizabeth McPherson Arnaud Monteil Maureen Bocian Antonie Kline University of Washington Center for Mendelian Genomics Paige Kaplan Raoul Hennekam Margaret E. Berry Jay Shendure Malgorzata J. M. Nowaczyk |
| Publication date | February 12, 2015 |
| Language | English |
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