Cargando…
Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
Background: Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of PAX3 (paired box 3). Here, we reported a pedigree with WS1, which was caused by a novel mutation in PAX3. Case Report: In this present report, a 10-year-old boy and his twin sister...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970110/ https://www.ncbi.nlm.nih.gov/pubmed/33747040 http://dx.doi.org/10.3389/fgene.2021.609040 |