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Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families
Auditory neuropathy spectrum disorder (ANSD), also called auditory neuropathy (AN), is a unique type of prelingual hearing impairment. Up to 10% of deaf infants and children are affected by this disease. Mutation of the OTOF gene which encodes otoferlin is the common cause of congenital nonsyndromic...
Autores principales: | Qiu, Yue, Chen, Sen, Xie, Le, Xu, Kai, Lin, Yi, Bai, Xue, Zhang, Hui-Min, Liu, Xiao-Zhou, Jin, Yuan, Sun, Yu, Kong, Wei-Jia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885821/ https://www.ncbi.nlm.nih.gov/pubmed/31827501 http://dx.doi.org/10.1155/2019/9765276 |
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