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Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review

BackgroundWaardenburg syndrome (WS) is a group of autosomal dominant hereditary disorders characterized by auditory–pigmentary abnormalities. Haploinsufficiency of paired box 3 (PAX3) gene is one of the known pathogenic mechanisms. However, clinical phenotypes are difficult to predict precisely in f...

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Principais autores: Qi Chen, Lin Shi, Yunpeng Chen, Xinyu Cao, Yan Yang
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2025-10-01
סדרה:Frontiers in Pediatrics
נושאים:
PAX3
Waardenburg syndrome
SNP-array analysis
chromosomal aberration
cleft vertebrae
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fped.2025.1642132/full
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