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Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
  1. M E Porteous,
  2. A Curtis,
  3. O Williams,
  4. D Marchuk,
  5. S S Bhattacharya,
  6. J Burn
  1. Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.

    Abstract

    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.

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