Article
Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis.
International urology and nephrology - 1 Jan 2008
Akcaglar Sevim, Yavascaoglu Ismet, Vuruskan Hakan, Oktay Bulent
Abstract excerpt
von Hippel-Lindau disease (VHL) is a rare autosomal-dominant disorder in which affected individuals develop tumors in a number of locations. It occurs at a frequency of one per 36,000 population. Metastatic renal cell carcinoma (RCC) remains the leading cause of mortality in patients with clear cell RCC arising from mutations in the VHL tumor suppressor. RCC is the presenting feature in only 10% of VHL patients....
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