Von Hippel-Lindau disease: a clinical and scientific review.
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ABSTRACT:
SUBMITTER: Maher ER
PROVIDER: S-EPMC3110036 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Publications
von Hippel-Lindau disease: a clinical and scientific review.
Maher Eamonn R ER Neumann Hartmut Ph HP Richard Stéphane S
European journal of human genetics : EJHG 20110309 6
The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillan ...[more]
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