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Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts

28 Feb 2023

Abstract excerpt

The aim of this study was to evaluate the diagnostic yield from prior genetic testing in a 20-year cohort of pediatric patients with congenital cataracts. A retrospective review of patients with congenital cataracts who underwent genetic testing was completed from 2003-2022. The diagnostic yield of the test was determined by variant classification and inheritance pattern. Variants from initial testing underwent...

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PMID: 36980880
DOI: 10.3390/genes14030608

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