Article
Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus.
Human genetics - 1 Jun 1991
Glenn G M, Daniel L N, Choyke P, Linehan W M, Oldfield E, Gorin M B, Hosoe S, Latif F, Weiss G, Walther M
Abstract excerpt
As part of an attempt to locate the von Hippel-Lindau locus (VHL) on chromosome 3, we evaluated 41 families with von Hippel-Lindau disease from the United States and Canada. One large family was identified whose disease phenotype was distinct from typical VHL. The most common disease manifestation was pheochromocytoma occurring in 57% (27/47) of affected family members. Few (4/47) affected family members had...
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