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 manifestatio...
Topics
- Adrenal Gland Neoplasms
- Alleles
- Carcinoma, Renal Cell
- Female
- Genetic Linkage
- Hemangioma
- Hemangiosarcoma
- Humans
- Kidney Neoplasms
- Lod Score
- Male
- Pancreatic Cyst
- Phenotype
- Pheochromocytoma
- Retinal Diseases
- von Hippel-Lindau Disease