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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Publicat a:BMC Med Genet
Autors principals: Tang, Fengzhu, Ma, Dengke, Wang, Yulan, Qiu, Yuecai, Liu, Fei, Wang, Qingqing, Lu, Qiutian, Shi, Min, Xu, Liang, Liu, Min, Liang, Jianping
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364697/
https://ncbi.nlm.nih.gov/pubmed/28335750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0400-0
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