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Article

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.

BMC medical genetics - 17 Jul 2013

Woo Hae-Mi, Park Hong-Joon, Baek Jeong-In, Park Mi-Hyun, Kim Un-Kyung, Sagong Borum, Koo Soo Kyung

Abstract excerpt

BACKGROUND: The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods. Whole-exome sequencing has recently been introduced as an alternative approach to identifying causative mutations in Mendelian disorders. METHODS: To identify the hidden mutations that cause autosomal recessive nonsyndromic hearing loss (ARNSHL), we performed whole-exome sequencing...

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Identifiers

PMID: 23865914
DOI: 10.1186/1471-2350-14-72
PMCID: PMC3727941

Genes

GJB2

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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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