Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling
Purpose Congenital cataracts are a leading cause of childhood blindness, with clinical impact due both to visual impairment and associated systemic disorders. They exhibit clinical and genetic heterogeneity, with pathogenic…
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