De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

F. Xia,M. Bainbridge,T. Tan,T. Tan,M. Wangler,A. Scheuerle,E. Zackai,M. Harr,V. Sutton,Roopa L. Nalam,Wenmiao Zhu,M. Nash,M. Ryan,J. Yaplito-Lee,J. Hunter,M. Deardorff,S. Penney,A. Beaudet,S. Plon,E. Boerwinkle,E. Boerwinkle,J. Lupski,C. Eng,D. Muzny,Yaping Yang,R. Gibbs

Published 2014 in American Journal of Human Genetics

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