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Article

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Journal of translational medicine - 9 Nov 2013

Gao Xue, Zhu Qing-yan, Song Yue-Shuai, Wang Guo-Jian, Yuan Yong-Yi, Xin Feng, Huang Sha-Sha, Kang Dong-Yang, Han Ming-Yu, Guan Li-ping, Zhang Jian-guo, Dai Pu

Abstract excerpt

BACKGROUND: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. METHODS: By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively...

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Identifiers

PMID: 24206587
DOI: 10.1186/1479-5876-11-284
PMCID: PMC3828584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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