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

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

BMC medical genetics - 24 May 2013

Ganaha Akira, Kaname Tadashi, Yanagi Kumiko, Naritomi Kenji, Tono Tetsuya, Usami Shin-ichi, Suzuki Mikio

Abstract excerpt

BACKGROUND: Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from O...

Read the complete abstract on PubMed

Topics

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

Share to Goiter, Nodular
Share to Hearing Loss, Sensorineural
Share to Islands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation Rate

Share to Radiography

Share to Sulfate Transporters

Share to Temporal Bone

Share to Vestibular Aqueduct

Source

Open in PubMed Open full text

Identifiers

PMID: 23705809
DOI: 10.1186/1471-2350-14-56
PMCID: PMC3664218

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23705809-2026-09-04.2. 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

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.PMID 23705809Read ↗

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Semantic proximity Read ↗

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

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.Semantic proximity Read ↗

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

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.Semantic proximity Read ↗

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

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.Semantic proximity Read ↗

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

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.Semantic proximity Read ↗

A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study.Semantic proximity Read ↗

Unique<i>SLC26A4</i>Mutation Spectrum in Mongolian Patients with Enlarged Vestibular Aqueduct: A Whole-Exome Sequencing StudySemantic proximity Read ↗

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