von Hippel-Lindau disease: A clinical and scientific review.

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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.European Journal of Human Genetics advance online publication, 9 March 2011; doi:10.1038/ejhg.2010.175.


Original languageEnglish
JournalEuropean Journal of Human Genetics
Publication statusPublished - 9 Mar 2011