Citations for
1APKC, 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
2ASMD5, FOXE3
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.
Islam L, Kelberman D, Williamson L, Lewis N, Glindzicz MB, Nischal KK, Sowden JC.
Hum Mutat 36(3):296-300. doi: 10.1002/humu.22741. 2015
3ASMD5, FOXE3
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL.
Eur J Hum Genet 19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8. 2011
4ASMD2, ASMD3, ASMD4, ASMD5, ASMFD, AXR1, AXR2, FOXC1, IRID1, MAF, PAX6, PITX2, RIEG1, RIEG2
Molecular and developmental mechanisms of anterior segment dysgenesis.
Sowden JC.
Eye 21(10):1310-8. Review. 2007
5ASMD5, FOXE3
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M.
Hum Mol Genet 10(3):231-6. 2001