| 1 | FTAA2, MFS1, MFS2, FTAA1, CHAR, TFAP2B, TAA |
| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. | |
| Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X. | |
| Eur J Hum Genet 12(3):173-80. 2004 | |
| 2 | CHAR, TFAP2B |
| Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. | |
| Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. | |
| Nat Genet 25(1):42-6. 2000 | |
| 3 | CHAR |
| Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. | |
| Satoda M, et al. | |
| Circulation 99(23):3036-42. 1999 | |