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Article

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

Advances in oto-rhino-laryngology - 1 Jan 2002

Friedman Thomas B, Hinnant John T, Ghosh Manju, Boger Erich T, Riazuddin S, Lupski James R, Potocki Lorraine, Wilcox Edward R

Abstract excerpt

We have now identified seven MYO15A mutations that cause congenital profound neurosensory hearing loss and a possible hypomorphic allele of MYO15A associated with moderately-severe hearing loss in 1 of 8 SMS patients. Because myosin XVA is encoded by 66 exons, screening for mutations in hearing-impaired individuals is expensive and labor-intensive in comparison to a screen for mutations in GJB2 (Cx26), for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12408074
DOI: 10.1159/000066824

Genes

GJB2
SMS

Provenance

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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DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.PMID 12408074Read ↗

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