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A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case report

2026-05-26

Abstract excerpt

<title>Abstract</title> <p>Background Alport syndrome (AS) is an inherited type IV collagen-related glomerular basement membrane disorder caused by variants in COL4A3, COL4A4, and COL4A5, among which COL4A5-related X-linked Alport syndrome (XLAS) is the most common form. Here, we report a family with XLAS carrying the COL4A5 c.4700G > A (p.Cys1567Tyr) variant and summarize its clinical, pathological, familial se...

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Literature Corpus work
66e308b8-9612-5165-8987-230e3e0a0fe2
DOI
10.21203/rs.3.rs-9428088/v1
Open publication

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