Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report

IntroductionAlport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of cases of digenic AS has increased, but the genotype-ph...

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Veröffentlicht in:	Case reports in nephrology and dialysis 2024, Vol.14 (1), p.1-9
Hauptverfasser:	Uedono, Hideki, Mori, Katsuhito, Nakatani, Shinya, Watanabe, Kohei, Nakaya, Rino, Morioka, Fumiyuki, Sone, Kazuma, Ono, Chie, Hotta, Junko, Tsuda, Akihiro, Morisada, Naoya, Seto, Toshiyuki, Nozu, Kandai, Emoto, Masanori
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
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