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Article

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Audiology & neuro-otology - 1 Jan 2007

Pauw Robert J, Collin Rob W J, Huygen Patrick L M, Hoefsloot Lies H, Kremer Hannie, Cremers Cor W R J

Abstract excerpt

The present study aims to report audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, G87W, in the LCCL domain of COCH. From the family with the novel G87W COCH mutation audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74) and with those obtained in G88E mutation...

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Source

Identifiers

PMID: 17264471
DOI: 10.1159/000097794

Genes

COCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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