Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

doi:10.1001/archotol.126.5.633

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Article

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Archives of otolaryngology--head & neck surgery - 1 May 2000

Frydman M, Vreugde S, Nageris B I, Weiss S, Vahava O, Avraham K B

Abstract excerpt

OBJECTIVES: To describe the detailed auditory phenotype of DFNA15, genetic hearing loss associated with a mutation in the POU4F3 transcription factor, and to define genotype-phenotype correlations, namely, how specific mutations lead to particular clinical consequences. DESIGN: An analysis of cli...

Topics

Adult
Audiometry, Pure-Tone
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
DNA Mutational Analysis
Female
Genes, Dominant
Genetic Carrier Screening
Genotype
Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homeodomain Proteins

Humans

Israel

Male

Middle Aged

Mutation

Phenotype

Source

Open in PubMed

Identifiers

PMID: 10807331
DOI: 10.1001/archotol.126.5.633

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-10807331-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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