Von Hippel–Lindau Gene Mutation in Non-Syndromic Familial Pheochromocytomas
✍ Scribed by AN-LI TONG; ZHENG-PEI ZENG; HAN-ZHONG LI; DI YANG; LIN LU; MING LI; YA-RU ZHOU; JING ZHANG; SHI CHEN; WEI LIANG
- Book ID
- 111479546
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 172 KB
- Volume
- 1073
- Category
- Article
- ISSN
- 0890-6564
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Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited disorder, characterised by the development of clear cell renal carcinomas, CNS hemangioblastomas, retinal angiomas, pancreatic tumors, pheochromocytomas and hepatic cysts. Recently a number of families with dominant familial pheoch
## Abstract The Von Hippel‐Lindau __(VHL)__ gene product has a wide spectrum of tissue‐specific functions, and specific germline mutations are associated with clinical phenotypes in VHL disease. In particular, missense mutations are correlated with the susceptibility to pheochromocytomas. An associ