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. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032

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Copyright © 2023 Rodríguez-Hidalgo, de Bruijn, Corradi, Rodenburg, Lara-López, Valverde-Megías, Ávila-Fernández, Fernandez-Caballero, Del Pozo-Valero, Corominas, Gilissen, Irigoyen, Cremers, Ayuso, Ruiz-Ederra and Roosing.

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Ophthalmic features of compound heterozygous retinopathy cases carrying c.6480-35A>G. Fundus autofluorescence (upper panel), OCT (middle panel), and color fundus (lower panel) for left (OS) and right (OD) eyes. (A) Proband A:II-6 carrying c.699_768+341del p.(Gln234Phefs*5) as the second allele. (B) Proband B:II-1 carrying c.1958G>A p.(Arg653His) as the second allele. Years, yrs.