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...

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Detalles Bibliográficos
Autores principales: Hu, Qiuming, Ma, Huazhong, Shen, Jiawei, Zhuang, Zongming, Li, Jianqiang, Huang, Xinlan, Li, Xian, Li, Haoyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
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

Internet

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

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