Article
De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
Journal of neurosurgery - 1 Aug 2014
Ding Xinghua, Zhang Chao, Frerich Jason M, Germanwala Anand, Yang Chunzhang, Lonser Russell R, Mao Ying, Zhuang Zhengping, Zhang Mingguang
Abstract excerpt
Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.