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Article

The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

ORL; journal for oto-rhino-laryngology and its related specialties - 1 Jan 2020

Lu Jiawen, Chen Penghui, Chen Tuanjie, Li Lin, Fu Xiaoli, Yang Tao, Wu Hao

Abstract excerpt

BACKGROUND: Dominant mutations in MYO7A may lead to nonsyndromic deafness DFNA11. A p.R206C variant in MYO7A has previously been reported in a small deaf family from Taiwan but with ambiguous pathogenicity and inheritance pattern. AIMS/OBJECTIVES: Our study aims to clarify the pathogenicity of this variant by clinical characterization and genetic analysis of a separate autosomal dominant deaf family harboring...

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Identifiers

PMID: 32428919
DOI: 10.1159/000506208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.PMID 32428919Read ↗

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