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Article

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Molecular vision - 1 Jan 2012

Kapoor Saketh, Bindu Parayil Sankaran, Taly Arun B, Sinha Sanjib, Gayathri Narayanappa, Rani S Vasantha, Chandak Giriraj Ratan, Kumar Arun

Abstract excerpt

PURPOSE: Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila) and SOX10 (SRY-box containing gene 10). Duchenne...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22876130
PMCID: PMC3413420

Genes

DMD
EDN3
EDNRB
MITF
PAX3
SNAI2
SOX10
SRY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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