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Article

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

Medicina oral, patologia oral y cirugia bucal - 1 May 2016

Sólia-Nasser L, de Aquino S-N, Paranaíba L-M R, Gomes A, Dos-Santos-Neto P, Coletta R-D, Cardoso A-F, Frota A-C, Martelli-Júnior H

Abstract excerpt

BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and...

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Source

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Identifiers

PMID: 27031059
DOI: 10.4317/medoral.20789
PMCID: PMC4867205

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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