| 1 | CWS |
| Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. | |
| Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. | |
| Eur J Hum Genet 13(2):176-83. 2005 | |
| 2 | CWS |
| X-linked mental retardation syndrome with characteristic coarse facial appearance, brachydactyly, and short stature maps to proximal Xq. | |
| Carpenter NJ, Qu Y, Curtis M, Patil SR. | |
| Am J Med Genet 85(3):230-5. 1999 | |
| 3 | ATRX, CWS |
| Carpenter-Waziri syndrome results from a mutation in XNP. | |
| Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontes M, Curtis M. | |
| Am J Med Genet 85(3):249-51. No abstract available. 1999 | |