Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel –Lindau disease: case report

Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel –Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations...

Source: BMC Medical Genetics - October 1, 2020 Category: Genetics & Stem Cells Authors: Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li and Kan Gong Tags: Case report Source Type: research