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