References
- Den Hollander AI, Roepman R, Koenekoop RK, et al. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008;27:391–419
- Lambert SR, Taylor D, Kriss A. The infant with nystagmus, normal appearing fundi, but an abnormal ERG. Surv Ophthalmol 1989;34:173–186
- Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 2002;11:1169–1176
- Ahmad A, Daud S, Kakar N, et al. Identification of a novel LCA mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Mol Vis 2011;17:1940–1945
- Li L, Xiao X Li S, et al. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS ONE 2011;6:e19458. Accession date 15 May 2012. doi:10.1371/journal.pone.0019458
- Perrault I, Hannein S, Gerber F, et al. Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. J Med Genet 2003;40:e90 (1--3)
- Koenekoop RK, Wang H, Majewski J, et al. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genet. Published online 29 July 2012; doi:10.1038/ng.2356
- Wang P, Guo X, Zhang Q. Further evidence of autosomal dominant Leber congenital amaurosis caused by heterozygous CRX mutation. Graefe's Arch Clin Exp Ophthalmol 2007;245:1401–1402
- Furukawa T, Morrow EM, Cepko CL. CRX, a novel OTX-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 1997;914:531–541
- Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997; 91:543–553
- Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998;18:311–312
- Sohocki MM, Sullivan LS, Mintz-Hittner HA, et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet 1998;63:1307–1315
- Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degeneration with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 1998;39:2417–2426
- Huang L, Xiao X, Li S, et al. CRX variants in cone–rod dystrophy and mutation overview. Biochem Biophys Res Comm 2012;426:498–503
- Nichols LL, Alur RP, Boobalan E, et al. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Hum Mutat 2010; 31:e1472–e1483