Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a histopathological diagnosis of the sclerosis of glomeruli and the damage to renal podocytes. FSGS affects the filtration function of the kidneys and results in nephrotic syndrome (NS) in children and adults. FSGS is a clinically and genetica...

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Detalles Bibliográficos
Autores principales: He, Zhechi, Wu, Ke, Xie, Wenqing, Chen, Jianghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452832/
https://www.ncbi.nlm.nih.gov/pubmed/36090564
http://dx.doi.org/10.3389/fped.2022.930258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452832/
https://www.ncbi.nlm.nih.gov/pubmed/36090564
http://dx.doi.org/10.3389/fped.2022.930258

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