Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study,...

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Detalles Bibliográficos
Autores principales: Liu, Fei, Hu, Jiongjiong, Xia, Wenjun, Hao, Lili, Ma, Jing, Ma, Duan, Ma, Zhaoxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427289/
https://www.ncbi.nlm.nih.gov/pubmed/25961296
http://dx.doi.org/10.1371/journal.pone.0126602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427289/
https://www.ncbi.nlm.nih.gov/pubmed/25961296
http://dx.doi.org/10.1371/journal.pone.0126602

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