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.
West Midlands Region Genetics Service, Birmingham Women's Hospital, Birmingham, UK.
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.
Written by:
Maher ER, Neumann HP, Richard S. Are you the author?
Reference: Eur J Hum Genet. 2011 Mar 9. Epub ahead of print.
doi: 10.1038/ejhg.2010.175
PubMed Abstract
PMID: 21386872
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