Genotype-phenotype correlation in von Hippel-Lindau syndrome.

Abstract excerpt

The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina. Clear-cell renal cell carcinoma is a frequent cause of death, occurring in up to 70% of patients with VHL....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenocarcinoma, Clear Cell
• Share to Carcinoma, Renal Cell
• Share to Chromosomes, Human, Pair 3