They detected 10 patients with Hereditary Hemorrhagic Telangiectasia (HHT; OMIM #187300) with more than one mutation in ENG or with one mutation in ENG and another one in ACVLR1 gene, but after functional analysis there were not differences compared to wild-type, considering these ENG missense mutations as rare benign variants30. Here, ENG is linked to hereditary hemorrhagic telangiectasia.