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Article

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

The Annals of otology, rhinology, and laryngology - 1 Mar 2002

De Leenheer Els M R, Huygen Patrick L M, Coucke Paul J, Admiraal Ronald J C, van Camp G, Cremers Cor W

Abstract excerpt

We analyzed hearing thresholds, speech recognition scores, and vestibular responses in 32 affected persons in a large family with DFNA2/KCNQ4-related hearing impairment caused by a W276S missense mutation. Linear regression analysis of individual longitudinal data revealed significant threshold progression (1 dB/y) and offset (at age zero). The mean offset thresholds were 5, 21, 40, 39, 31, and 51 dB hearing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11915881
DOI: 10.1177/000348940211100312

Genes

KCNQ4

Variants

Provenance

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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