Mutations in transforming growth factor-β (TGF-β) signaling pathway-related genes cause syndromic TAAD, such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and Shprintzen-Goldberg syndrome (SGS), and these syndromes potentially affect skeletal, ocular, pulmonary, and cardiovascular systems [3,4]. Here, TGFB1 is linked to Goldberg-Shprintzen syndrome.