Von-Hippel-Lindau-Syndrom
✍ Scribed by H.T. Agostini
- Publisher
- Springer
- Year
- 2007
- Tongue
- German
- Weight
- 553 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0941-293X
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Von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene mapped to human chromosome 3p25. It is characterized clinically by vascular tumors, including retinal and central nervous system hemangioblastomas (cerebellar,
## Abstract Von Hippel‐Lindau (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