Article
Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
Clinical & experimental ophthalmology - 1 Apr 2010
Chacon-Camacho Oscar F, Rodriguez-Dennen Fernando, Camacho-Molina Alejandra, Rasmussen Astrid, Alonso-Vilatela Elisa, Zenteno Juan C
Abstract excerpt
BACKGROUND: von Hippel-Lindau disease (VHL) is an uncommon autosomal dominant condition predisposing to the development of tumours in a variety of body organs and caused by germline mutations in VHL, a tumour suppressor gene located on 3p. Up to 60% of VHL patients show ocular involvement with retinal hemangioblastoma being the most common observed lesion. In this study, we describe the clinical and genetic...
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