1. Shaw MW, Falls HF, Neel JV. Congenital Aniridia. Am J Hum Genet. 1960; 12(4 Pt 1):389–415.
2. Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. Acta Ophthalmol. 2008; 86:708–15.
Article
3. Wolf MT, Lorenz B, Winterpacht A, et al. Ten novel mutations found in Aniridia. Hum Mutat. 1998; 12:304–13.
Article
4. Axton R, Hanson I, Danes S, et al. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation abdominalion in 12 cases. J Med Genet. 1997; 34:279–86.
5. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992; 2:232–9.
Article
6. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat. 1998; 11:93–108.
Article
7. Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991; 67:1059–74.
Article
8. Gehring WJ, Ikeo K. Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet. 1999; 15:371–7.
Article
9. St-Onge L, Sosa-Pineda B, Chowdhury K, et al. Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature. 1997; 387:406–9.
10. Stoykova A, Gruss P. Roles of Pax-genes in developing and adult brain as suggested by expression patterns. J Neurosci. 1994; 14(3 Pt 2):1395–412.
Article
11. D'Elia AV, Pellizzari L, Fabbro D, et al. A deletion 3′ to the PAX6 gene in familial aniridia cases. Mol Vis. 2007; 13:1245–50.
12. Robinson DO, Howarth RJ, Williamson KA, et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008; 146A:558–69.
13. Fantes J, Redeker B, Breen M, et al. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet. 1995; 4:415–22.
Article
14. Crolla JA, van Heyningen V. Frequent chromosome aberrations abdominal by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet. 2002; 71:1138–49.
15. Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977; 83:718–24.
Article
16. Traboulsi EI, Ellison J, Sears J, et al. Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. Am J Ophthalmol. 2008; 145:760–4.
Article
17. Lim HT, Seo EJ, Kim GH, et al. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology. 2012; 119:1258–64.
18. Thomas MG, Kumar A, Mohammad S, et al. Structural grading of foveal hypoplasia using spectraldomain optical coherence abdominal a predictor of visual acuity? Ophthalmology. 2011; 118:1653–60.
19. Love J, Axton R, Churchill A, et al. A new set of primers for mutation analysis of the human PAX6 gene. Hum Mutat. 1998; 12:128–34.
Article
20. Brown A, McKie M, van Heyningen V, Prosser J. The human PAX6 mutation database. Nucleic Acids Res. 1998; 26:259–64.
Article
21. Semina EV, Ferrell RE, Mintz-Hittner HA, et al. A novel homeo-box gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998; 19:167–70.
Article
22. Semina EV, Brownell I, Mintz-Hittner HA, et al. Mutations in the human forkhead transcription factor FOXE3 associated with abdominal segment ocular dysgenesis and cataracts. Hum Mol Genet. 2001; 10:231–6.
23. Grønskov K, Rosenberg T, Sand A, Brøndum-Nielsen K. Mutational analysis of PAX6: 16 novel mutations including 5 missense abdominal with a mild aniridia phenotype. Eur J Hum Genet. 1999; 7:274–86.
24. Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia. Hum Mol Genet. 1993; 2:915–20.
Article
25. Singh S, Chao LY, Mishra R, et al. Missense mutation at the C-ter-minus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 2001; 10:911–8.
Article
26. Bobilev AM, McDougal ME, Taylor WL, et al. Assessment of PAX6 alleles in 66 families with aniridia. Clin Genet. 2016; 89:669–77.
Article
27. Villarroel CE, Villanueva-Mendoza C, Orozco L, et al. Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations. Mol Vis. 2008; 14:1650–8.
28. Kim JH, Hwang BS, Lee JH, Cha SC. PAX6 mutations and clinical features of congenital aniridia. J Korean Ophthalmol Soc. 2008; 49:1794–800.
Article
29. Chang JW, Kim JH, Kim SJ, Yu YS. Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors. Korean J Ophthalmol. 2014; 28:479–85.
Article
30. Park SH, Park YG, Lee MY, Kim MS. Clinical features of Korean patients with congenital aniridia. Korean J Ophthalmol. 2010; 24:291–6.
Article