Article
Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.
Familial cancer - 1 Dec 2011
Nielsen Sarah M, Rubinstein Wendy S, Thull Darcy L, Armstrong Michaele J, Feingold Eleanor, Yip Linwah, Tisherman Samuel A, Carty Sally E
Abstract excerpt
Although a large kindred with familial pheochromocytoma (Pheo) and paraganglioma (PGL) was discovered in 1962 and later found to represent von Hippel-Lindau (VHL) type 2A (mutation Y112H), the phenotype lacks current characterization. Branch-specific expressivity was suspected based on oral family history. Family pedigree analysis, prospective interviews, and extensive record review were used to extend the...
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