Article
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.
Human mutation - 1 Jan 2004
Maranchie Jodi K, Afonso Anoushka, Albert Paul S, Kalyandrug Sivaram, Phillips John L, Zhou Shubo, Peterson James, Ghadimi Bijan M, Hurley Katheen, Riss Joseph, Vasselli James R, Ried Thomas, Zbar Berton, Choyke Peter, Walther McClellan M, Klausner Richard D, Linehan W Marston
Abstract excerpt
von Hippel Lindau disease (VHL) is an autosomal dominant familial cancer syndrome linked to alteration of the VHL tumor suppressor gene. Affected patients are predisposed to develop pheochromocytomas and cystic and solid tumors of the kidney, CNS, pancreas, retina, and epididymis. However, organ involvement varies considerably among families and has been shown to correlate with the underlying germline alteration....
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