Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Abstract Background Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of...

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Bibliographic Details
Main Authors: David Marx, Sophie Caillard, Jérôme Olagne, Bruno Moulin, Thierry Hannedouche, Guy Touchard, Arnaud Dupuis, Christian Gachet, Anne Molitor, Seiamak Bahram, Raphael Carapito
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
focal segmental glomerulosclerosis
glomerular basement membrane duplication
membranoproliferative glomerulonephritis
podocalyxin
PODXL
Online Access:https://doi.org/10.1002/mgg3.1658

Internet

https://doi.org/10.1002/mgg3.1658

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