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6. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094 [TBL] [Abstract][Full Text] [Related]
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13. Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa. Trichonas G; Traboulsi EI; Ehlers JP Ophthalmic Genet; 2017; 38(4):320-324. PubMed ID: 27880076 [TBL] [Abstract][Full Text] [Related]
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19. Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. Quinn PM; Mulder AA; Henrique Alves C; Desrosiers M; de Vries SI; Klooster J; Dalkara D; Koster AJ; Jost CR; Wijnholds J Hum Mol Genet; 2019 Jan; 28(1):105-123. PubMed ID: 30239717 [TBL] [Abstract][Full Text] [Related]
20. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. Yang L; Wu L; Yin X; Chen N; Li G; Ma Z Mol Vis; 2014; 20():359-67. PubMed ID: 24715753 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]