TGFBR1 and Loeys-Dietz syndrome: Among these, Loeys-Dietz syndrome (MIM # 609,192) shows mutations in other genes which are involved in the same pathway of FBN1 and include TGFBR1 (MIM * 190,181), TGFBR2 (MIM * 190,182), SMAD3 (MIM * 603,109), TGFB2 (MIM * 190,220), TGFB3 (MIM * 190,230) and SMAD2 (MIM * 601,366) [23, 25].