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

J. X. Chong (1) , M. J. Mcmillin (1) , K. M. Shively (1) , A. E. Beck (1) , C. T. Marvin (1) , J. R. Armenteros (1) , K. J. Buckingham (1) , N. T. Nkinsi (1) , E. A. Boyle (1) , M. N. Berry (2) , M. Bocian , N. Foulds , M. L. Uzielli , C. Haldeman-Englert (2) , 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 (3, 4) , Philippe Lory (3, 4) , H. K. Tabor , J. D. Smith (1) , J. Shendure (1) , D. A. Nickerson (1) , Genomics University of Washington Center For Mendelian , M. J. Bamshad

1 University of Washington [Seattle]
2 Wake Forest School of Medicine [Winston-Salem]
3 IGF - Institut de Génomique Fonctionnelle
4 LabEx Ion Channel Science and Therapeutics

Domaines: Sciences du Vivant [q-bio]

J. X. Chong, M. J. Mcmillin, K. M. Shively, A. E. Beck, C. T. Marvin, et al.. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics, 2015, 96 (3), pp.462-73. ⟨10.1016/j.ajhg.2015.01.003⟩. ⟨hal-02064371⟩