Article
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Current opinion in nephrology and hypertension - 1 May 2024
Puapatanakul Pongpratch, Miner Jeffrey H
Abstract excerpt
PURPOSE OF REVIEW: With the latest classification, variants in three collagen IV genes, COL4A3 , COL4A4 , and COL4A5 , represent the most prevalent genetic kidney disease in humans, exhibiting diverse, complex, and inconsistent clinical manifestations. This review breaks down the disease spectrum and genotype-phenotype correlations of kidney diseases linked to genetic variants in these genes and distinguishes...
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