Article
Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
American journal of medical genetics. Part A - 1 Jan 2011
Nielsen Sarah M, Rubinstein Wendy S, Thull Darcy L, Armstrong Michaele J, Feingold Eleanor, Stang Michael T, Gnarra James R, Carty Sally E
Abstract excerpt
Von Hippel-Lindau (VHL) disease type 2A is an inherited tumor syndrome characterized by predisposition to pheochromocytoma (pheo), retinal hemangioma (RA), and central nervous system hemangioblastoma (HB). Specific VHL subtypes display genotype-phenotype correlations but, unlike other familial syndromes such as MEN-2, the phenotype in VHL has not yet been stratified at the codon level. Over decades, we have...
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