A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the POU class 4 transcription factor 3 (POU4F3) are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. In this study, we describe a pathogenic missense mutation in POU4F3 in a four-ge...

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Detalles Bibliográficos
Autores principales: Gao, Xue, Xu, Jin-Cao, Wang, Wei-Qian, Yuan, Yong-Yi, Bai, Dan, Huang, Sha-Sha, Wang, Guo-Jian, Su, Yu, Li, Jia, Kang, Dong-Yang, Zhang, Mei-Guang, Lin, Xi, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904794/
https://www.ncbi.nlm.nih.gov/pubmed/29850532
http://dx.doi.org/10.1155/2018/5370802

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