| 1 | ATRX, JMS |
| Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. | |
| Villard L, et al. | |
| Am J Hum Genet 58 : 499-505. 1996 | |
| 2 | JMS, ATRX |
| XNP mutation in a large family with Juberg-Marsidi syndrome. | |
| Villard L, et al. | |
| Nat Genet 12 : 359-360. 1996 | |
| 3 | JMS |
| The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). | |
| Saugier-Veber P, et al. | |
| Am J Hum Genet 52 : 1040-1045. 1993 | |