| 1 | CCDDL, MAF |
| Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. | |
| Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. | |
| Am J Hum Genet 96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. 2015 | |
| 2 | CCDDL |
| Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. | |
| Keppler-Noreuil K, Welch J, Baker-Lange K. | |
| Am J Med Genet A 143A(21):2581-7. 2007 | |