De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay
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| Description | scholarly preprint article |
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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 Paige Kaplan Raoul Hennekam Margaret E. Berry Jay Shendure |
| Publication date | January 11, 2015 |
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