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

J. X. Chong; M. J. Mcmillin; K. M. Shively; A. E. Beck; C. T. Marvin; J. R. Armenteros; K. J. Buckingham; N. T. Nkinsi; E. A. Boyle; M. N. Berry; M. Bocian; N. Foulds; M. L. Uzielli; C. Haldeman-Englert; R. C. Hennekam; P. Kaplan; A. D. Kline; C. L. Mercer; M. J. Nowaczyk; J. S. Klein Wassink-Ruiter; E. W. Mcpherson; R. A. Moreno; A. E. Scheuerle; V. Shashi; C. A. Stevens; J. C. Carey; Arnaud Monteil; Philippe Lory; H. K. Tabor; J. D. Smith; J. Shendure; D. A. Nickerson; Genomics University of Washington Center For Mendelian; M. J. Bamshad

doi:10.1016/j.ajhg.2015.01.003

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

J. X. Chong, M. J. Mcmillin, K. M. Shively, A. E. Beck, C. T. Marvin, J. R. Armenteros, K. J. Buckingham, N. T. Nkinsi, E. A. Boyle, M. N. Berry, …

American Journal of Human Genetics, Vol.96(3), pp.462-73

2015

DOI: https://doi.org/10.1016/j.ajhg.2015.01.003

PMCID: PMC4375444

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Title: De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Creators - without role: J. X. Chong - University of Washington
M. J. Mcmillin - University of Washington
K. M. Shively - University of Washington
A. E. Beck - University of Washington
C. T. Marvin - University of Washington
J. R. Armenteros - University of Washington
K. J. Buckingham - University of Washington
N. T. Nkinsi - University of Washington
E. A. Boyle - University of Washington
M. N. Berry - Wake Forest University
M. Bocian - University of California, Irvine
N. Foulds - University Hospital Southampton NHS Foundation Trust
M. L. Uzielli - University of Florence
C. Haldeman-Englert - Wake Forest University
R. C. Hennekam - University of Amsterdam
P. Kaplan - Children's Hospital of Philadelphia
A. D. Kline - Greater Baltimore Medical Center
C. L. Mercer - University of Southampton
M. J. Nowaczyk - McMaster University
J. S. Klein Wassink-Ruiter
E. W. Mcpherson - Marshfield Clinic
R. A. Moreno - Universidad de La Frontera
A. E. Scheuerle - The University of Texas Southwestern Medical Center
V. Shashi - Duke Medical Center
C. A. Stevens - University of Tennessee at Chattanooga
J. C. Carey - University of Utah
Arnaud Monteil - Université de Montpellier, Institut de Génomique Fonctionnelle - IGF
Philippe Lory - Université de Montpellier, Institut de Génomique Fonctionnelle - IGF
H. K. Tabor - University of Washington
J. D. Smith - University of Washington
J. Shendure - University of Washington
D. A. Nickerson - University of Washington
Genomics University of Washington Center For Mendelian
M. J. Bamshad - University of Washington
Publication Details: American Journal of Human Genetics, Vol.96(3), pp.462-73
Identifiers: 9944135409311
Academic Unit: Institut de Génomique Fonctionnelle - IGF
Language: English
Resource Type: Journal article
Local Fields: hal-02064371