TGFB1 and Loeys-Dietz syndrome: Yet, this is intriguing because disorders associated with mutations in genes of the TGF-β/BMP/activin pathway, such as Marfan syndrome (MIM: 154700), Loeys-Dietz syndrome (MIM: 610168), Shprintzen-Goldberg (MIM: 182212), or fibrodysplasia ossificans progressive (FOP; MIM: 135100) share some common features with known PAE disorders.54