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This Venn diagram illustrates the phenotypic overlap of connective tissue disorders associated with pneumothorax, Marfan syndrome (FBN1), Loeys-Dietz (TGFBR1 and TGFBR2), vascular Ehlers-Danlos syndrome (COL3A1), cutis laxa (FBLN5, EFEMP2, LTBP4, and ELN), and Williams syndrome (7q11.23 deletion, which includes ELN). Central features of these diseases, however, include pneumothorax, joint hypermobility, and vascular disease, including aortopathies
