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A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

BACKGROUND: Hereditary hearing loss is a heterogeneous class of disorders showing various patterns of inheritance and involving many genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. METHODS: We report on a Chinese fa...

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Détails bibliographiques
Publié dans:J Transl Med
Auteurs principaux: Huang, Aiping, Yuan, Yongyi, Liu, Yanping, Zhu, Qingwen, Dai, Pu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4448535/
https://ncbi.nlm.nih.gov/pubmed/25963406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-015-0483-3
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