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Article

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

International journal of pediatric otorhinolaryngology - 1 Dec 2017

Trabelsi Mediha, Nouira Malek, Maazoul Faouzi, Kraoua Lilia, Meddeb Rim, Ouertani Ines, Chelly Imen, Benoit Valérie, Besbes Ghazi, Mrad Ridha

Abstract excerpt

Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. The aims of this study are to confirm the diagnostic of WS1 by the sequencing of...

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Source

Identifiers

PMID: 29224756
DOI: 10.1016/j.ijporl.2017.09.029

Genes

PAX3

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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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