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Article

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Audiology & neuro-otology - 1 Jan 2006

Santos Regie Lyn P, Häfner Franziska M, Huygen Patrick L M, Linder Thomas E, Schinzel Albert A, Spillmann Thomas, Leal Suzanne M

Abstract excerpt

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI...

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Identifiers

PMID: 16717440
DOI: 10.1159/000093525
PMCID: PMC2923580

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