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Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.

Neural plasticity - 1 Jan 2019

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

Abstract excerpt

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 ANSD. To date, over 110 mutations have been identified in the OTOF gene according to the Human Gene Mutation...

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Identifiers

PMID: 31827501
DOI: 10.1155/2019/9765276
PMCID: PMC6885821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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