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Xia F, Bainbridge M, Tan T, Wangler M, Scheuerle A, Zackai E, Harr M, Sutton V , Nalam R, Zhu W, Nash M, Ryan M, Yaplito-Lee J, Hunter J, Deardorff M, Penney S, Beaudet A, Plon S, Boerwinkle E, Lupski J, Eng C, Muzny D, Yang Y, Gibbs R. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. The American Journal of Human Genetics. 2014 May;94(5):784–9. doi: 10.1016/j.ajhg.2014.04.006. |