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Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into...

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Detalles Bibliográficos
Autores principales:	Tang, Fengzhu, Ma, Dengke, Wang, Yulan, Qiu, Yuecai, Liu, Fei, Wang, Qingqing, Lu, Qiutian, Shi, Min, Xu, Liang, Liu, Min, Liang, Jianping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364697/ https://www.ncbi.nlm.nih.gov/pubmed/28335750 http://dx.doi.org/10.1186/s12881-017-0400-0

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