Article
Somatic mosaicism in von Hippel-Lindau Disease.
Human mutation - 1 Jan 2000
Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G
Abstract excerpt
von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of...
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