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Article

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

International journal of pediatric otorhinolaryngology - 1 Oct 2015

Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Farhadi Mohammad, Bahrami Tayyeb, Noori-Daloii Mohammad Reza

Abstract excerpt

OBJECTIVES: Sensorineural hearing impairment (HI) is one of the most frequent congenital defects, with a prevalence of 1 in 500 among neonates. Although there are over 400 syndromes involving HI, most cases of HI are nonsyndromic (70%), 20% of which follow autosomal dominant mode of inheritance. Waardenburg syndrome (WS) ranks first among autosomal dominant syndromic forms of HI. WS is characterized by...

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Identifiers

PMID: 26279250
DOI: 10.1016/j.ijporl.2015.07.039

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.

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