TGFB1 and juvenile polyposis syndrome: Additionally, various MFS-related diseases are caused by abnormalities in TGF-β signaling, which include Beals syndrome caused by mutations in fibrillin-2 (Putnam et al., 1995), Loeys–Dietz syndrome (LDS) caused by mutations in TGF-β receptor (TGFBR) 1 or TGFBR2 (Mizuguchi et al., 2004; Loeys et al., 2005, 2006), juvenile polyposis syndrome caused by mutations in Smad4, a TGF-β signaling factor (Howe et al., 1998), and Shprintzen–Goldberg syndrome caused by mutations in SKI, a gene that suppresses Smad signaling (Doyle et al., 2012).