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Article

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

Ophthalmic genetics - 1 Mar 2000

Sotirova V N, Rezaie T M, Khoshsorour M M, Sarfarazi M

Abstract excerpt

Waardenburg syndrome Type I (WS1) is an autosomal dominant disorder that has previously been associated with mutations in the PAX3 gene on the 2q35 region. In this study, we used an Iranian WS1 family with seven affected individuals in three generations. The phenotypic characteristics of the family include sensorineural deafness, dystopia canthorum, hypopigmented skin patches of the upper limbs, congenital white...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10779847

Genes

PAX3

Provenance

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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Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.PMID 10779847Read ↗

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