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Type
Journal Article
Title

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Authors:

Author Name(s)
Chong, Jessica X.
McMillin, Margaret J.
Shively, Kathryn M.
Beck, Anita E.
Marvin, Colby T.
Armenteros, Jose R.
Buckingham, Kati J.
Nkinsi, Naomi T.
Boyle, Evan A.
Berry, Margaret N.
Bocian, Maureen
Foulds, Nicola
Uzielli, Maria Luisa Giovannucci
Haldeman-Englert, Chad
Hennekam, Raoul C.M.
Kaplan, Paige
Kline, Antonie D.
Mercer, Catherine L.
Nowaczyk, Malgorzata J.M.
Wassink-Ruiter, Jolien S. Klein
McPherson, Elizabeth W.
Moreno, Regina A.
Scheuerle, Angela E.
Shashi, Vandana
Stevens, Cathy A.
Carey, John C.
Monteil, Arnaud
Lory, Philippe
Tabor, Holly K.
Smith, Joshua D.
Shendure, Jay
Nickerson, Deborah A.
Bamshad, Michael J.

Year:

Date
2015
Journal Book Publisher Name
American journal of human genetics

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