## Abstract Von HippelβLindau (VHL) disease is an uncommon, autosomal dominant hereditary multitumor syndrome caused by germline alterations of the __VHL__ gene, which has been cloned recently and identified as a tumor suppressor gene. The major lesions in VHL disease include hemangioblastomas in t
Retinal angiomatosis and von Hippel-Lindau disease
β Scribed by K.-M. Kreusel; N. E. Bechrakis; T. Heinichen; L. Neumann; H. P. H. Neumann; M. H. Foerster
- Publisher
- Springer-Verlag
- Year
- 2000
- Tongue
- English
- Weight
- 72 KB
- Volume
- 238
- Category
- Article
- ISSN
- 0065-6100
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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
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well. Reports of VHL mutations are dispersed throughout original articles and databases that have not been recently updated. We compiled a comprehensi
Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat