Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Bart Loeys and colleagues identify mutations or deletions of TGFB2 in individuals with thoracic aortic aneurysm and other features of Loeys-Dietz syndrome. TGFB2 encodes the transforming growth factor-β2 ligand.