Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago
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DOI: 10.1002/mgg3.1972
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway. read more here.
Keywords: hereditary hemorrhagic; hemorrhagic telangiectasia; first demonstration; telangiectasia first ... See more keywords