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. 2024 Aug 10;14:18580. doi: 10.1038/s41598-024-69640-9

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

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Results of next generation sequencing (NGS), copy-number variations (CNVs), and Multiplex Dependent Probe Amplification (MLPA) document the concurrence of two different pathogenic allele combinations in the EYS gene in the same pedigree. Graphical representation of the frameshift variant c.6714delT p.(Ile2239Serfs*17) in exon 33, found in heterozygosity in patient II:2 (A) and in homozygosity in patient II:3 (B). Detection of a possible heterozygous deletion of exon 29 in patient II:2 using SureCall software for CNVs analysis (C), and MLPA assay confirming heterozygosity for the recurrent deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del of exon 29 in the same patient (D).