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Article

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Clinical genetics - 1 Nov 2025

Demir Şenol, Ateş Esra Arslan, Sevik Orkun, Sözer Bengisu, Köse Tuğba, Şahin Özlem, Arman Ahmet, Geçkinli Bilgen Bilge

Abstract excerpt

Inherited retinal dystrophies (IRDs) are genetic disorders characterized by retinal pigment epithelium or photoreceptor degeneration. Advances in molecular diagnostic technologies, particularly next-generation sequencing (NGS), have facilitated the identification of disease-causing variants; however, population-specific genetic data, especially for Turkish cohorts, remain limited. This study aims to investigate...

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Identifiers

PMID: 40371729
DOI: 10.1111/cge.14769
PMCID: PMC12501730

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