Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings

Hereditary nephrotic syndrome often presents with steroid-resistance and onset within the first year of life. Mutations in genes highly expressed in podocytes have been found in two thirds of these patients, especially NPHS1 and NPHS2 among at least 29 genetic causes that have been discovered. We re...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Zhang, Hongwen, Wang, Fang, Liu, Xiaoyu, Zhong, Xuhui, Yao, Yong, Xiao, Huijie
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2017
Assuntos:
Brief Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5735285/
https://ncbi.nlm.nih.gov/pubmed/29259860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2017.01037
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