A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS. PATIENT CONCERNS: A 31-d...

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Detalles Bibliográficos
Autores principales: Xie, Dan, Wu, Jiangfen, Zhang, Wenyi, Jin, Tingting, Wu, Peng, An, Banquan, Huang, Shengwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936045/
https://www.ncbi.nlm.nih.gov/pubmed/36800604
http://dx.doi.org/10.1097/MD.0000000000032970

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9936045/
https://www.ncbi.nlm.nih.gov/pubmed/36800604
http://dx.doi.org/10.1097/MD.0000000000032970

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