Mosaicism in von Hippel–Lindau disease with severe renal manifestations
1. 请及时下载文件确认是否正确, 系统将在 2025-04-29 15:34:38 删除文件
2. 如若文件有误请驳回应助文件, 求助状态即回到求助中
3. 如若文件正确请及时点击确认, 若超过时后系统自动默认为已完结
注: 所有应助的资源仅供学习交流使用, 不得违反相关法律法规
DOI:
文献链接:
其他信息:
P Wu, N Zhang, X Wang, T Li, X Ning, D Bu…
Clinical …, 2013
Wiley Online Library
von Hippel–Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection of mosaic germline VHL mutations, making the diagnosis of some cases of VHL difficult. Here, we report the case of a VHL …
