Associated Papers
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
Daher A et al.
Bmc Ophthalmology, 2024
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
Aleman TS et al.
Investigative Ophthalmology & Visual Science, 2011
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Li L et al.
Molecular Vision, 2011
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
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