Mutations in Activin receptor-like kinase gene (ACVRL1) encoding the type I receptor ALK1, a major partner in the TGFβ signaling pathway, has been associated with hereditary hemorrhagic telangiectasia type 2 (HHT2, OMIM 600376) (Johnson et al., 1996). Here, TGFB1 is linked to telangiectasia, hereditary hemorrhagic, type 2.