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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Vydáno v:Front Genet
Hlavní autoři: Hu, Qiuming, Ma, Huazhong, Shen, Jiawei, Zhuang, Zongming, Li, Jianqiang, Huang, Xinlan, Li, Xian, Li, Haoyu
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7970110/
https://ncbi.nlm.nih.gov/pubmed/33747040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.609040
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