Article
[From gene to disease; Von Hippel-Lindau disease].
Nederlands tijdschrift voor geneeskunde - 20 Jul 2002
Hes F J, Los M, van der Luijt R B
Abstract excerpt
Von Hippel-Lindau (VHL) disease is an autosomal, dominantly inherited, tumour syndrome. Carriers of a germline mutation in the VHL tumour suppressor genes are predisposed to develop tumours in various organs including the eye, cerebellum and kidney. These tumours are often multicentric or bilateral, and manifest at a younger age than in situations without a VHL germline mutation. VHL germline mutations are...
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