TGFB1 and Marfan syndrome: In addition to the mutations in FBN1 associated with Marfan syndrome, pathologically tall stature may be related to variants of TGFBR1/TGFBR2 (Loeys-Dietz syndrome, a disorder with Marfanoid features in which excessive activity of TGFβ is also of pathophysiologic relevance), NSD1 (cerebral gigantism/Sotos syndrome), EZH2 (Weaver syndrome), DNMT3A (Tatton-Brown-Rahman syndrome), and NFIX (Malan syndrome) (14).