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. 1994 Dec;31(12):925-6.
doi: 10.1136/jmg.31.12.925.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia

M E Porteous  1 , A Curtis, O Williams, D Marchuk, S S Bhattacharya, J Burn
Affiliations

Genetic heterogeneity in hereditary haemorrhagic telangiectasia

M E Porteous et al. J Med Genet. 1994 Dec.

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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