Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

PURPOSE: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was to evaluate the diagnostic contribution of RPGR variants in an unselected IRD pa...

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Detalles Bibliográficos
Autores principales: Tuupanen, Sari, Gall, Kimberly, Sistonen, Johanna, Saarinen, Inka, Kämpjärvi, Kati, Wells, Kirsty, Merkkiniemi, Katja, von Nandelstadh, Pernilla, Sarantaus, Laura, Känsäkoski, Johanna, Mårtenson, Emma, Västinsalo, Hanna, Schleit, Jennifer, Sankila, Eeva-Marja, Kere, Annakarin, Junnila, Heidi, Siivonen, Pauli, Andreevskaya, Margarita, Kytölä, Ville, Muona, Mikko, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742508/
https://www.ncbi.nlm.nih.gov/pubmed/34985506
http://dx.doi.org/10.1167/tvst.11.1.6

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