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Article

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Human genetics - 1 Apr 2022

Oh Kyung Seok, Walls Daniel, Joo Sun Young, Kim Jung Ah, Yoo Jee Eun, Koh Young Ik, Kim Da Hye, Rim John Hoon, Choi Hye Ji, Kim Hye-Youn, Yu Seyoung, Smith Richard J, Choi Jae Young, Gee Heon Yung, Jung Jinsei

Abstract excerpt

This phenotype-genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential ethnic-specific differences associated with COCH-related hearing loss. Eight Korean families (26 cases) were diagnosed with COCH-related hearing loss by exome sequencing. Audiometric test results were combined with those from nine published East Asian families (20...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34529116
DOI: 10.1007/s00439-021-02368-y
PMCID: PMC8924011

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