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Article

Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.

The journal of international advanced otology - 1 Jan 2024

Shahid Mariam, Ahmed Mohamed, Avula Shivaram, Dasgupta Soumit

Abstract excerpt

The gene MED13 participates in transcription. The MED13L gene is a paralog of MED13 that is involved in developmental gene expression. Mutations in the gene have been shown to result in a heterogenous phenotype affecting several physiological systems. Hearing loss has been reported very rarely, and vestibular weakness has never been reported in the condition. In this report, we present a mutation of MED13L in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38454295
DOI: 10.5152/iao.2024.231284
PMCID: PMC10895866

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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