De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay (Q30403401)
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| English | 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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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay (English)
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Jay Shendure
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University of Washington Center for Mendelian Genomics
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Arnaud Monteil
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Deborah A Nickerson
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Raoul C M Hennekam
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Malgorzata J M Nowaczyk
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Michael J Bamshad
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Kati J Buckingham
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Anita E Beck
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Holly K Tabor
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Maria Luisa Giovannucci Uzielli
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Colby T Marvin
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Naomi T Nkinsi
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Margaret N Berry
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Maureen Bocian
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Nicola Foulds
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Chad Haldeman-Englert
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Paige Kaplan
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Antonie D Kline
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Jolien S Klein Wassink-Ruiter
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Elizabeth W McPherson
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Angela E Scheuerle
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Vandana Shashi
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Cathy A Stevens
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Philippe Lory
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Margaret J McMillin
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Kathryn M Shively
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Jose R Armenteros
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Catherine L Mercer
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Regina A Moreno
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John C Carey
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Joshua D Smith
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12 February 2015
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462-473
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Identifiers
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