Article
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Molecular vision - 1 Jan 2021
Tracewska Anna M, Kocyła-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jabłónska Joanna, Rydzanicz Małgorzata, Stawiński Piotr, Ciara Elżbieta, Lipska-Ziętkiewicz Beata S, Khan Muhammad Imran, Cremers Frans P M, Płoski Rafał, Chrzanowska Krystyna H
Abstract excerpt
Purpose: Inherited retinal diseases (IRDs), encompassing many clinical entities affecting the retina, are classified as rare disorders. Their extreme heterogeneity made molecular screening in the era before next-generation sequencing (NGS) expensive and time-consuming. Since then, many NGS studies of IRD molecular background have been conducted in Western populations; however, knowledge of the IRD mutational...
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