Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study
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The authors aimed to characterize the clinical heterogeneity and functional consequences of novel PAX2 variants in pediatric kidney disease. Through a retrospective analysis of 15 probands, they identified 14 distinct PAX2 variants, including seven previously unreported, and observed significant variability in kidney manifestations and disease severity. Their findings underscore the importance of early genetic testing and highlight the diverse phenotypic and pathological presentations associated with PAX2-related kidney disease in children.
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