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

• Príomhchruthaitheoirí: Zhen Liu (Údar), Jingcheng Zhou (Údar), Liang Li (Údar), Zhiqiang Yi (Údar), Runchun Lu (Údar), Chunwei Li (Údar), Kan Gong (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-10-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract Background 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 in the VHL tumor suppressor gene, with most mutations occurring in the...