Article
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
Neoplasma - 1 Jan 2007
Stanojevic B R, Lohse P, Neskovic G G, Damjanovic S M, Novkovic T B, Jovanovic-Cupic S P, Dimitrijević B B
Abstract excerpt
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer predisposition syndrome due to germline mutations in the VHL tumor suppressor gene which is associated with virtually complete penetrance. The VHL syndrome has a highly variable phenotypic expressivity including retinal and CNS haemangioblastomas, pheochromocytomas, renal clear cell carcinomas, and multifocal cysts. In order to establish...
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