Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.
Acta neurochirurgica(2023)
摘要
Finally, clinical history correlated to the different genotypes in the family, concluding that the severity of these VHL manifestations are due to both, VHL-and-CHEK2 mutations. This case report aims to notice the importance of deeper genetic analyses, in inherited rare diseases, to uncover non-expected mutations.
更多查看译文
关键词
von Hippel-Lindau disease (VHL), Rare cancer, CNS Hemangioblastomas, Chek2, ccRCC, Personalized medicine
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要