Supporting that TGFBR2 and TGFBR1 play a similar role, it was found that missense mutations in either Tgfbr1 (M318R) or Tgfbr2 (G357W), mutations associated with severe Loeys-Dietz syndrome in human patients, cause enhanced growth of the aortic root and enlarged aortas in mice14. The gene discussed is TGFBR1; the disease is Loeys-Dietz syndrome.