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Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children

Abstract Background The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their childhood. More clinical and genetic data from these patients are needed to...

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Principais autores: Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang, Jianhua Zhou
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-04-01
Serier:Italian Journal of Pediatrics
Fag:
End-stage kidney disease
NUP93
NUP107
NUP160
Steroid-resistant nephrotic syndrome
Gene variants
Online adgang:https://doi.org/10.1186/s13052-024-01656-3
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