The phenotype of the TGF-β2 deficient patients also shows overlap with other TGF-β signalopathies including Marfan syndrome, Loeys-Dietz syndrome, the aneurysm-osteoarthritis syndrome and similarly present with a paradoxical, probably compensatory, local increase in TGF-β1 and TGF-β2. Here, TGFB2 is linked to Loeys-Dietz syndrome.