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Article

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Nov 2002

Bom Steven J H, Van Camp Guy, Cryns Kim, Admiraal Ronald J C, Huygen Patrick L M, Cremers Cor W R J

Abstract excerpt

OBJECTIVE: To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineural nonsyndromic hearing impairment trait in relation to similar traits. STUDY DESIGN: Family study, including retrospective case reviews. SETTING: Tertiary referral center. PATIENTS: Hearing impairment was documented in 11 family members in five generations, 8 of whom were alive and participated in this study....

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Source

Identifiers

PMID: 12438850
DOI: 10.1097/00129492-200211000-00012

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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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Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.PMID 12438850Read ↗

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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.Semantic proximity Read ↗

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.Semantic proximity Read ↗

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].Semantic proximity Read ↗

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.Semantic proximity Read ↗

Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3.Semantic proximity Read ↗

Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.Semantic proximity Read ↗

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.Semantic proximity Read ↗

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