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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Frontiers Media S.A.
2025-10-01
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| Series: | Frontiers in Pediatrics |
| Assuntos: | |
| Acceso en liña: | https://www.frontiersin.org/articles/10.3389/fped.2025.1642132/full |
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