Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

Abstract Advances in genetic testing have improved IRD diagnostics and counseling. To enhance these advances and contribute to an inclusive genetic landscape, this study examines genetic causes in 111 Iranian patients clinically diagnosed with non-syndromic IRD (48% males, > 90% born to consangui...

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Bibliographic Details
Main Authors: Pam A.T. Heutinck, Adriana I. Iglesias, Dariush D. Farhud, Marianne van Tienhoven, Atiyeh Khoshraftar, Marjan Zarif-Yeganeh, Sima Kheradmand Kia, Mohsen Ghanbari, Magda A. Smoor, Caroline C.W. Klaver, Lies H. Hoefsloot, Alberta A.H.J. Thiadens, Virginie J.M. Verhoeven
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-08272-z
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