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Article

Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

The Annals of otology, rhinology, and laryngology - 1 Jun 2011

Pauw Robert J, Huygen Patrick L M, Colditz Gordon M, Cremers Cor W R J

Abstract excerpt

OBJECTIVES: We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH. METHODS: Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed. Cross-sectional hearing levels related to age, age-related typical audiograms, and...

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Source

Identifiers

PMID: 21774451
DOI: 10.1177/000348941112000612

Genes

COCH

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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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