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Article

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.

Gene - 15 Dec 2015

Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Farhadi Mohammad, Bahrami Tayeb, Emamdjomeh Hesam, Noori-Daloii Mohammad Reza

Abstract excerpt

Waardenburg syndrome (WS) is a disease of abnormal neural-crest derived melanocyte development characterized by hearing loss and pigmentary disturbances in hair, eyes and skin. WS is subdivided into four major types, WS1-WS4, where WS1 is recognized by the presence of dystopia canthorum, with PAX3 being the only known gene involved. This study aimed at investigating PAX3 mutations and clinical characteristics of...

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Source

Identifiers

PMID: 26275939
DOI: 10.1016/j.gene.2015.08.023

Genes

PAX3

Variants

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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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