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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sandokji, Ibrahim, Marquez, Jonathan, Ji, Weizhen, Zerillo, Cynthia A., Konstantino, Monica, Lakhani, Saquib A., Khokha, Mustafa K., Warejko, Jillian K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637548/
https://www.ncbi.nlm.nih.gov/pubmed/31315584
http://dx.doi.org/10.1186/s12882-019-1458-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637548/
https://www.ncbi.nlm.nih.gov/pubmed/31315584
http://dx.doi.org/10.1186/s12882-019-1458-z

Ejemplares similares