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1 Possible Causes for PAVM More Frequent in HHT1 than HHT2

  • Hereditary Hemorrhagic Telangiectasia Type 2

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominantly inherited vascular-malformation syndrome associated with gene mutations including ENG, ACVRL1 and SMAD4 gene. Clinically indistinguishable HHT1 and HHT2 are caused by mutations in ENG and ACVRL1 gene, respectively. Generally, pulmonary arteriovenous[…][ncbi.nlm.nih.gov]

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