A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Abstract Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IRDs from Pakistan, the world’s fifth most populous c...

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Main Authors: Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00488-2
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