Articles with "cep290 lca" as a keyword



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Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series

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Published in 2022 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2147960

Abstract: ABSTRACT Purpose To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in CEP290 (CEP290-LCA) with a focus on elucidating the origin of yellow-white lesions… read more here.

Keywords: cep290 lca; lesions cep290; leber congenital; like lesions ... See more keywords