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Article

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.

International journal of pediatric otorhinolaryngology - 1 May 2017

Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Alimadadi Hossein, Noori-Daloii Mohammad Reza

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This...

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Source

Identifiers

PMID: 28390600
DOI: 10.1016/j.ijporl.2017.03.016

Genes

SOX10
EDN3
EDNRB

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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