| 1 | CTHMT, TBX1 |
| A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease. | |
| Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, Hou XM, Yang YQ. | |
| Pediatr Cardiol 36(7):1400-10. doi: 10.1007/s00246-015-1173-x. Epub 2015 Apr 10. 2015 | |
| 2 | CTHMT, TBX1 |
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. | |
| Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. | |
| Cell 104(4):619-29. 2001 | |