| 1 | CHDRSS, TKT |
| Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. | |
| Boyle L, Wamelink MM, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. | |
| Am J Hum Genet 98(6):1235-42. doi: 10.1016/j.ajhg.2016.03.030. 2016 | |