Article
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
Human genetics - 1 Sept 1996
Glavac D, Neumann H P, Wittke C, Jaenig H, Masek O, Streicher T, Pausch F, Engelhardt D, Plate K H, Höfler H, Chen F, Zbar B, Brauch H
Abstract excerpt
von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma and pancreatic tumors. Clinically two types of the disease can be distinguished: VHL type 1 (without pheochromocytoma) and VHL type 2 (with pheochromocytoma). We report VHL germline mutations and trends in phenotypic...
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