Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

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 o...

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Detalles Bibliográficos
Autores principales: Tracewska, Anna M., Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jabłońska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Lipska-Ziętkiewicz, Beata S., Khan, Muhammad Imran, Cremers, Frans P.M., Płoski, Rafał, Chrzanowska, Krystyna H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8286799/
https://www.ncbi.nlm.nih.gov/pubmed/34321860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8286799/
https://www.ncbi.nlm.nih.gov/pubmed/34321860

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