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Article

Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.

Clinical dysmorphology - 1 Jul 2024

Macaskill Laura, Reali Lisa, Naik Swati

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Identifiers

PMID: 38411002
DOI: 10.1097/MCD.0000000000000482

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.PMID 38411002Read ↗

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.Semantic proximity Read ↗

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

Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.Semantic proximity Read ↗

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.Semantic proximity Read ↗

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Semantic proximity Read ↗

A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.Semantic proximity Read ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.Semantic proximity Read ↗

Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.Semantic proximity Read ↗

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.Semantic proximity Read ↗

A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.Semantic proximity Read ↗

Waardenburg syndrome--a case report.Semantic proximity Read ↗

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