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Medline ® Abstract for Reference 85

of 'Clinical features, diagnosis, and management of von Hippel-Lindau disease'

von Hippel-Lindau disease: a clinical and scientific review.
Maher ER, Neumann HP, Richard S
Eur J Hum Genet. 2011 Jun;19(6):617-23. Epub 2011 Mar 09.
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 surveillance strategies.
Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK. E.R.MAHER@bham.ac.uk