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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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