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      Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

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          Abstract

          Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by epistaxis, mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs), particularly in the brain (CAVMs), lungs (PAVMs), liver (HAVMs) and gastrointestinal tract (GI). The identification of a mutated ENG (HHT1) or ALK-1 (HHT2) gene now enables a genotype-phenotype correlation.

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          Author and article information

          Journal
          J Thromb Haemost
          Journal of thrombosis and haemostasis : JTH
          Wiley
          1538-7933
          1538-7836
          Jun 2007
          : 5
          : 6
          Affiliations
          [1 ] Department of Internal Medicine and Public Health, University of Bari, Bari, Italy. c.sabba@dimimp.uniba.it
          Article
          JTH02531
          10.1111/j.1538-7836.2007.02531.x
          17388964
          df22d6ca-949b-4537-a8de-1b036380653e
          History

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