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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 five unrelated HHT families. Linkage analysis in this region resulted in a peak multipoint location score of 13.03, 10...

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Identifiers

PMID: 7891374
DOI: 10.1136/jmg.31.12.927
PMCID: PMC1016692

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