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Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families

8 Jan 2024

Abstract excerpt

Purpose: To extend the mutation spectrum and explore the characteristics of genotypes and ocular phenotypes in ectopia lentis (EL). Methods: Variants in all 14 reported EL-associated genes were selected from in-house data sets as well as literature review, and available clinical data were analyzed. Results: Likely pathogenic variants in three genes were identified in 156 unrelated families with EL from the...

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PMID: 38190127
DOI: 10.1167/iovs.65.1.20

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