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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

23 Nov 2020

Abstract excerpt

Objectives:X-linked Alport syndrome (XLAS) females are at risk of developing proteinuria and chronic kidney damage (CKD). The aim of this study is to evaluate the genotype-phenotype correlation in this rare population. Materials and Methods:This is a prospective, observational study of XLAS females, confirmed by a pathogenic mutation inCOL4A5and renal ultrastructural evaluation. Proteinuria, renal function and...

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PMID: 33330536
DOI: 10.3389/fmed.2020.580376

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