Citations for
1APKC, FOXE3
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC.
Cornea 37(9):1178-1181. doi: 10.1097/ICO.0000000000001655. Review. 2018
2APKC, FOXE3
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N.
Clin Genet 93(4):837-845. doi: 10.1111/cge.13177. 2018
3APKC, ASMD5, FOXE3
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC.
Cornea 37(9):1178-1181. doi: 10.1097/ICO.0000000000001655. Review. 2018
4APKC, FOXE3
FOXE3 plays a significant role in autosomal recessive microphthalmia.
Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV.
Am J Med Genet A m J Med Genet A. 2010 Feb 5. [Epub ahead of print]PMID: 20140963 2010
5APKC, FOXE3
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.
Mol Vis 16:1162-8. 2010
6APKC, FOXE3
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.
Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK.
Hum Mutat 30(10):1378-86.PMID: 19708017 2009
7FOXE3, APKC
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B.
Am J Hum Genet 79(2):358-64. Epub 2006 Jun 8. 2006