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Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience

4 Feb 2025

Abstract excerpt

Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, and COL4A5. Genetic diagnosis is increasingly being conducted using next-generation sequencing (NGS). Methods: Within eight years, we examined a group of 247 Polish individuals and found in total 138 unrelated probands suspected with AS based on clinical course,...

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PMID: 40004525
DOI: 10.3390/genes16020196

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