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Article

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

Human mutation - 1 Apr 2001

Kamarinos M, McGill J, Lynch M, Dahl H

Abstract excerpt

Hereditary hearing loss is a heterogeneous condition at both the genetic and clinical levels. We have recruited an Australian family with dominant sensorineural nonsyndromic late onset hearing loss. The hearing loss typically begins in the second or third decade of life as a high frequency loss which progresses to a severe to profound loss by the sixth to seventh decade. All affected family members presented with...

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Source

Identifiers

PMID: 11295836
DOI: 10.1002/humu.37

Genes

COCH

Variants

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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Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.PMID 11295836Read ↗

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