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Article

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.

Acta oto-laryngologica - 1 Apr 2013

Matsunaga Tatsuo, Mutai Hideki, Namba Kazunori, Morita Noriko, Masuda Sawako

Abstract excerpt

CONCLUSION: PAX3 genetic analysis increased the diagnostic accuracy for Waardenburg syndrome type I (WS1). Analysis of the three-dimensional (3D) structure of PAX3 helped verify the pathogenicity of a missense mutation, and multiple ligation-dependent probe amplification (MLPA) analysis of PAX3 increased the sensitivity of genetic diagnosis in patients with WS1. OBJECTIVES: Clinical diagnosis of WS1 is often...

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Source

Identifiers

PMID: 23163891
DOI: 10.3109/00016489.2012.744470

Genes

PAX3

Variants

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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