Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

PURPOSE: Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES)....

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Publicat a:Genet Med
Autors principals: Bademci, Guney, Foster, Joseph, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Horta, Oscar Diaz, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Hernandez, Fabiola Huesca, de la Luz Arenas Sordo, Maria, Dominguez-Aburto, Juan, Hernandez-Zamora, Edgar, Montenegro, Paola, Paredes, Rosario, Moreta, Germania, Vinueza, Rodrigo, Villegas, Franklin, Mendoza Benitez, Santiago, Guo, Shengru, Bozan, Nazim, Tos, Tulay, Incesulu, Armagan, Sennaroglu, Gonca, Blanton, Susan H., Ozturkmen Akay, Hatice, Yildirim-Baylan, Muzeyyen, Tekin, Mustafa
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4733433/
https://ncbi.nlm.nih.gov/pubmed/26226137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.89
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