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Article

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

Genes - 23 Nov 2022

Tawalbeh Mohamed, Aburizeg Dunia, Abu Alragheb Bayan O, Alaqrabawi Wala Sami, Dardas Zain, Srour Luma, Altarayra Baraah Hatem, Zayed Ayman A, El Omari Zaid, Azab Bilal

Abstract excerpt

SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either DFNB4 or PDS. Three unrelated Jordanian families consisting of eight affected individuals with congenital bilateral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36553459
DOI: 10.3390/genes13122192
PMCID: PMC9778369

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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