Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

International journal of pediatric otorhinolaryngology - 1 Mar 2013

Huang Shasha, Han Dongyi, Wang Guojian, Yuan Yongyi, Song Yueshuai, Han Mingyu, Chen Zhengyi, Dai Pu

Abstract excerpt

BACKGROUND: Most studies of the molecular etiology of sensorineural hearing loss have described deafness as a monogenic disease encompassing double-allele mutations for patients with autosomal recessive deafness. Here, we report the first case of autosomal recessive genetic deafness in an enlarge...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Child
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Hearing Loss, Sensorineural

Share to Membrane Transport Proteins

Share to Sulfate Transporters

Share to Vestibular Aqueduct

Source

Identifiers

PMID: 23266159
DOI: 10.1016/j.ijporl.2012.11.031

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23266159-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.PMID 23266159Read ↗

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.Semantic proximity Read ↗

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.Semantic proximity Read ↗

Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.Semantic proximity Read ↗

Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.Semantic proximity Read ↗

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.Semantic proximity Read ↗

Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.Semantic proximity Read ↗

[Genotype and clinical phenotype analysis of 42 patients with delayed nonsyndromic hearing loss].Semantic proximity Read ↗

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.Semantic proximity Read ↗

GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Semantic proximity Read ↗

Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss.Semantic proximity Read ↗

Genetic Counseling of a Hearing-impaired Patient with Multiple Genetic Mutations.Semantic proximity Read ↗

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.