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

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

21 Oct 2019

Abstract excerpt

OBJECTIVE: To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss. METHODS: In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing of...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Hearing, Cochlea, Tinnitus, Genetics
Share to Vestibular and auditory disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31633822
DOI: 10.1002/lary.27319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVAPMID 31633822Read ↗

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.Semantic proximity Read ↗

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.Semantic proximity Read ↗

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.Semantic proximity Read ↗

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

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

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).Semantic proximity Read ↗

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

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.Semantic proximity Read ↗

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

Genetic Variants and Audiometric Patterns in Nonsyndromic Enlarged Vestibular Aqueduct Chinese Children with Complete Hearing LossSemantic proximity Read ↗

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

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

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