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Article

[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 1 Oct 2005

Liu Yu-he, Ke Xiao-mei, Xiao Shui-fang

Abstract excerpt

OBJECTIVE: To explore the mutations of Wolfram syndrome I gene (WFS1) in families affected by non-syndromic low frequency sensorineural hearing loss (NS-LFSNHL). METHODS: Twenty eight individuals from 6 pedigrees with hereditary non-syndromic low frequency sensorineural hearing loss as a dominant...

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Source

Identifiers

PMID: 16408729

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16408729-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].PMID 16408729Read ↗

[Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].Semantic proximity Read ↗

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.Semantic proximity Read ↗

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.Semantic proximity Read ↗

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.Semantic proximity Read ↗

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.Semantic proximity Read ↗

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.Semantic proximity Read ↗

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findingsSemantic proximity Read ↗

Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.Semantic proximity Read ↗

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.Semantic proximity Read ↗

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.Semantic proximity Read ↗

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.Semantic proximity Read ↗

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.Semantic proximity Read ↗

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