Case Report: a novel variant in WT1 leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping

Case Report: a novel variant in WT1 leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping

BackgroundPodocytopathies are a varied set of renal diseases in which podocytes are unable to perform their typical filtration function within the glomerulus. This typically leads to edema, proteinuria, and hypoalbuminemia early in life. Among podocytopathies, focal segmental glomerulosclerosis (FSG...

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Bibliographic Details
Main Authors: Jonathan Marquez, Lauren O’Sullivan, Audrey E. Squire, Ginny L. Ryan, Katherine E. Debiec, Anne-Marie Amies Oelschlager, Margaret P. Adam
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Nephrology
Subjects:
podocytopathy
nephrotic syndrome
kidney transplant
renal genetics
splicing
WT1
Online Access:https://www.frontiersin.org/articles/10.3389/fneph.2025.1542475/full
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https://www.frontiersin.org/articles/10.3389/fneph.2025.1542475/full

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