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

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.

Neuro endocrinology letters - 1 Feb 2008

Maciaszczyk Katarzyna, Lewiński Andrzej

Abstract excerpt

This paper presents the current views, regarding the pathomechanisms, which lead to the development of pathological symptoms in the enlargement of the vestibular aqueduct syndrome (EVAS) and the Pendred syndrome (PS). Associated phenotypes have been discussed and an attempt has been undertaken to correlate them with a corresponding genotype. Mutations of SLC26A4 gene are one of the factors, which are at the base...

Read the complete abstract on PubMed

Topics

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

Share to Hearing Loss
Share to Membrane Transport Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Sulfate Transporters

Share to Syndrome

Share to Vestibular Aqueduct

Source

Identifiers

PMID: 18283249

Genes

KCNJ10

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

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.PMID 18283249Read ↗

Novel mutations in the SLC26A4 gene.Semantic proximity Read ↗

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndromeSemantic proximity Read ↗

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.Semantic proximity Read ↗

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

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.Semantic proximity Read ↗

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.Semantic proximity Read ↗

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Semantic proximity Read ↗

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.Semantic proximity Read ↗

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.Semantic proximity Read ↗

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.Semantic proximity Read ↗

[Current status and perspectives of the research in Pendred syndrome].Semantic proximity Read ↗

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.Semantic proximity Read ↗

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