Von-Hipple Lindau syndrome with family history: a case report and seventeen years follow-up study

BackgroundVon-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were randomly selected for VHL genetic testing as cont...

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發表在:	Frontiers in Oncology
Main Authors:	XueMei Fan, Shuai Wang, Tianwen Chen, Wei Hu, Hui Yang
格式:	Article
語言:	英语
出版:	Frontiers Media S.A. 2024-03-01
主題:	13588427516 0531-56006952. 2 Von-Hippel Lindau syndrome VHL gene gene mutation exome sequencing pedigree analysis
在線閱讀:	https://www.frontiersin.org/articles/10.3389/fonc.2024.1360942/full