| 1 | ALDH1A3, MCOP8 |
| ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia. | |
| Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. | |
| Am J Hum Genet 92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. 2013 | |
| 2 | ALDH1A3, MCOP8 |
| ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. | |
| Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. | |
| Hum Mol Genet 22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. 2013 | |