Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

Journal Article (Journal Article)

A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families.

Full Text

Duke Authors

Cited Authors

  • Porteous, ME; Curtis, A; Williams, O; Marchuk, D; Bhattacharya, SS; Burn, J

Published Date

  • December 1994

Published In

Volume / Issue

  • 31 / 12

Start / End Page

  • 925 - 926

PubMed ID

  • 7891373

Pubmed Central ID

  • PMC1016691

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.31.12.925


  • eng

Conference Location

  • England