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

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.

BMC medical genomics - 8 Jul 2022

He Xiaohui, Zhao Shaozhi, Shi Lin, Lu Yitong, Yang Yintong, Zhang Xinwen

Abstract excerpt

BACKGROUND: To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and its homozygous mutations or compound heterozygous mutations may cause deafness and strongly affect quality of life. METHODS: The patients who came to our hospital for hearing test and...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Deafness
Share to Hearing Loss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Membrane Transport Proteins

Share to Quality of Life

Share to Sulfate Transporters

Share to Vestibular Aqueduct

Source

Open in PubMed Open full text

Identifiers

PMID: 35804348
DOI: 10.1186/s12920-022-01271-3
PMCID: PMC9270741

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.PMID 35804348Read ↗

A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueductsSemantic proximity Read ↗

Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.Semantic proximity Read ↗

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct.Semantic proximity Read ↗

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.Semantic proximity Read ↗

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.Semantic proximity Read ↗

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

Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct.Semantic proximity Read ↗

A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts.Semantic proximity Read ↗

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.Semantic proximity Read ↗

Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome.Semantic proximity Read ↗

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.Semantic proximity Read ↗

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.Semantic proximity Read ↗

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