A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
Author:
Funder
CRBF
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s10633-023-09951-w.pdf
Reference26 articles.
1. Kumaran N et al (2017) Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol 101(9):1147–1154
2. Koenekoop RK (2004) An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol 49(4):379–398
3. den Hollander AI et al (2008) Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27(4):391–419
4. Bujakowska K et al (2012) CRB1 mutations in inherited retinal dystrophies. Hum Mutat 33(2):306–315
5. Tsang SH, Sharma T (2018) Leber congenital amaurosis. Adv Exp Med Biol 1085:131–137
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