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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

22 May 2023

Abstract excerpt

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing...

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PMID: 37217489
DOI: 10.1038/s41525-023-00352-1

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