Article
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
Journal of medical genetics - 1 Jun 2018
Aronoff Laura, Malkin David, van Engelen Kalene, Gallinger Bailey, Wasserman Jonathan, Kim Raymond H, Villani Anita, Meyn M Stephen, Druker Harriet
Abstract excerpt
BACKGROUND: von Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both benign and malignant tumours in multiple organs. Recent evidence suggests that vHL may exhibit genetic anticipation (GA). The aim of this study was to determine if GA occurs in vHL, and if telomere shortening may be a factor in GA. METHODS: A retrospective chart review of vHL...
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