Article
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
American journal of medical genetics. Part A - 1 Apr 2006
Abbott Mary-Alice, Nathanson Katherine L, Nightingale Simon, Maher Eamonn R, Greenstein Robert M
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a heritable tumor susceptibility syndrome caused by germline mutations in the VHL gene. The types of tumor that can occur in affected individuals include retinal and central nervous system hemangioblastoma, renal cell carcinoma, pheochromocytoma, and others. The pattern of tumor types that develops in a VHL-affected family defines the clinical subtype (1, 2A, 2B, 2C). Generally,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.