Article
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
Journal of medical genetics - 1 Dec 1994
McAllister K A, Lennon F, Bowles-Biesecker B, McKinnon W C, Helmbold E A, Markel D S, Jackson C E, Guttmacher A E, Pericak-Vance M A, Marchuk D A
Abstract excerpt
Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia characterised by recurrent haemorrhage. Our initial linkage studies found an HHT gene to be localised to 9q3 in two large kindreds. In the present study, we examine an additional...
Topics
- Chromosomes, Human, Pair 9
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Male
- Pedigree
- Phenotype
- Telangiectasia, Hereditary Hemorrhagic