De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

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 dia...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2014
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067559/
https://ncbi.nlm.nih.gov/pubmed/24791903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.04.006
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