| 1 | AN, FVH, PAX6 |
| Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. | |
| Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M. | |
| Mol Vis ol Vis. 2007 2007 | |
| 2 | FVH |
| Variable phenotype related to a novel PAX 6 mutation (IVS4+5G-to-C) in a family presenting congenital nystagmus and foveal hypoplasia. | |
| Vincent, M-C.; Gallai, R.; Olivier, D.; Speeg-Schatz, C.; Flament, J.; Calvas, P.; Dollfus, H. | |
| Am. J. Ophthal. 138: 1016-1021. 2004 | |
| 3 | ECTP, FVH, PAX6 |
| Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. | |
| Singh S, Chao LY, Mishra R, Davies J, Saunders GF. | |
| Hum Mol Genet 10(9):911-8. 2001 | |
| 4 | FVH, PAX6 |
| PAX6 missense mutation in isolated foveal hypoplasia. | |
| Azuma N, et al. | |
| Nat Genet 13 : 141-142. 1996 | |