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Article

Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.

The Laryngoscope - 1 Jan 2010

Fujikawa Taro, Noguchi Yoshihiro, Ito Taku, Takahashi Masatoki, Kitamura Ken

Abstract excerpt

OBJECTIVES/HYPOTHESIS: To describe the audiological profiles in a Japanese family with autosomal dominant hereditary sensorineural hearing loss (SNHL) and to identify the causative gene. STUDY DESIGN: A family study at an academic tertiary referral center. METHODS: A family with autosomal dominant hereditary SNHL was enrolled. Hearing loss (HL) of affected members showed mid-frequency SNHL in childhood and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19877185
DOI: 10.1002/lary.20691

Genes

WFS1
GJB2
TECTA

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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