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...

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Vydáno v:Neural Plast
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2019
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6885821/
https://ncbi.nlm.nih.gov/pubmed/31827501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/9765276
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