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Article

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.

International journal of pediatric otorhinolaryngology - 1 Oct 2018

Saberi Mohammad, Golchehre Zahra, Salmani Hamzeh, Karamzade Arezou, Tabatabaie Seyed Ziaeddin, Keramatipour Mohammad

Abstract excerpt

OBJECTIVES: Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). While WS2 and WS4 have locus heterogeneity with multiple causative genes. Here we report a novel splice site...

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Source

Identifiers

PMID: 30173992
DOI: 10.1016/j.ijporl.2018.08.009

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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