Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesPlain Language Summary

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesPlain Language Summary

Rationale & Objective: Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4) have been identified in a spectrum of glomerular basement membrane nephropathies, including thin basement membrane nephropathy and autosomal dominant Alport syndrome. With the increasing use of next generation...

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Bibliographic Details
Main Authors: Sander Groen in ’t Woud, Ilse M. Rood, Eric Steenbergen, Brigith Willemsen, Henry B. Dijkman, Michel van Geel, Jeroen Schoots, Jack F.M. Wetzels, Dorien Lugtenberg, Jeroen K.J. Deegens, Ernie M.H.F. Bongers
Format: Article
Language:English
Published: Elsevier 2023-04-01
Series:Kidney Medicine
Subjects:
Alport syndrome
COL4A3/COL4A4
FSGS
genotype-phenotype
mono-allelic variants
type IV collagen nephropathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2590059523000110

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http://www.sciencedirect.com/science/article/pii/S2590059523000110

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