Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

BACKGROUND: Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. CASE PRESENTATION: Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome cau...

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Detalhes bibliográficos
Publicado no:BMC Nephrol
Main Authors: Sandokji, Ibrahim, Marquez, Jonathan, Ji, Weizhen, Zerillo, Cynthia A., Konstantino, Monica, Lakhani, Saquib A., Khokha, Mustafa K., Warejko, Jillian K.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6637548/
https://ncbi.nlm.nih.gov/pubmed/31315584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1458-z
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