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