Molecular genetic analysis of von Hippel-Lindau disease.

doi:10.1046/j.1365-2796.1998.00334.x

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Article

Molecular genetic analysis of von Hippel-Lindau disease.

Journal of internal medicine - 1 Jun 1998

Richards F M, Webster A R, McMahon R, Woodward E R, Rose S, Maher E R

Abstract excerpt

Von Hippel-Lindau (VHL) disease is a dominantly inherited multisystem family cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal carcinoma, phaeochromocytoma, pancreatic islet cell tumours and endolymphatic sac tumours. In addition, renal, pancreatic and e...

Topics

Age of Onset
Diagnosis, Differential
Genetic Linkage
Genetic Testing
Genotype
Germ-Line Mutation
Humans
Phenotype
von Hippel-Lindau Disease

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