Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

@article{McAllister1994GeneticHI,
  title={Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.},
  author={Kimberly Ann McAllister and Felicia Lennon and Barbara Bowles-Biesecker and Wendy C. McKinnon and Elizabeth A Helmbold and Dorene S. Markel and Charles E. Jackson and Alan E. Guttmacher and Margaret A. Pericak-Vance and Douglas A. Marchuk},
  journal={Journal of medical genetics},
  year={1994},
  volume={31 12},
  pages={927-32}
}
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 five unrelated HHT families. Linkage analysis in this region resulted in a peak multipoint location score of 13.03, 10 cM proximal of D9S60. We found significant evidence for heterogeneity of HHT… CONTINUE READING
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