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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

20 May 2021

Abstract excerpt

IMPORTANCE: Identification of geographic population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies. OBJECTIVE: To report disease-causing variants and their detailed phenotype in patients with bilateral congenital cataract from a single center in Switzerland and thereby draw a genetic map and...

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PMID: 34014271
DOI: 10.1001/jamaophthalmol.2021.0385

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