Article
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
American journal of human genetics - 1 May 2014
Xia Fan, Bainbridge Matthew N, Tan Tiong Yang, Wangler Michael F, Scheuerle Angela E, Zackai Elaine H, Harr Margaret H, Sutton V Reid, Nalam Roopa L, Zhu Wenmiao, Nash Margot, Ryan Monique M, Yaplito-Lee Joy, Hunter Jill V, Deardorff Matthew A, Penney Samantha J, Beaudet Arthur L, Plon Sharon E, Boerwinkle Eric A, Lupski James R, Eng Christine M, Muzny Donna M, Yang Yaping, Gibbs Richard A
Abstract excerpt
Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known" disease-associated loci, and many are...
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