Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification

Investigative Ophthalmology and Visual Science · Published 2026-08-03 · DOI 10.1167/iovs.67.10.1

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Authors (17)

Lara K. Holtes, Di Chen, Siobhan Guilfoyle, Harriet O'Leary, Julio C. Corral-Serrano, Erica G. M. Boonen, Lonneke Haer-Wigman, Sara E. Nieuwenhuis, Rosellina Guarascio, Vasileios Toulis, Danilo Andrade de Jesus, Frans P. M. Cremers, Alberta A. H. J. Thiadens, Michael E. Cheetham, Suzanne E. de Bruijn, Alison J. Hardcastle, Susanne Roosing

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Publication details

Year

2026

Citation

Holtes, L., Chen, D., Guilfoyle, S., et al. (2026). Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification. Investigative Ophthalmology and Visual Science. https://doi.org/10.1167/iovs.67.10.1

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