Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

Complement factor B (CFB) variants have been described to play a causative role in auto-immune associated C3 glomerulopathy (C3G) and/or atypical hemolytic uremic syndrome (aHUS) by affecting the dysregulations of alternative pathway activation. However, CFB variant concomitant with COL4A5 variant i...

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Bibliographic Details
Main Authors: Feng-mei Wang, Yan Yang, Xiao-liang Zhang, Yan-li Wang, Yan Tu, Bi-Cheng Liu, Bin Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
complement factor B
COL4A5
variant
complement alternative pathway
renal disease
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.690952/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.690952/full

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