Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies

Abstract  Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder causing vascular dysplasias. About 70–80% of HHT patients carries mutations in ENG or ACVRL1 genes, which code for a TGFβ receptor type II