Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review

BACKGROUND: Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms’ tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 gene and presen...

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Detalles Bibliográficos
Autores principales: Li, Yiyang, Tian, Chuan, Wang, Yajun, Ma, Guoda, Chen, Riling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204972/
https://www.ncbi.nlm.nih.gov/pubmed/35710404
http://dx.doi.org/10.1186/s12887-022-03358-3

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