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

Abstract 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 syndr...

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Detalhes bibliográficos

Principais autores:	Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2019-07-01
coleção:	BMC Nephrology
Assuntos:	Steroid-resistant nephrotic syndrome Focal segmental glomerulosclerosis Whole exome sequencing Genetics Inherited diseases
Acesso em linha:	http://link.springer.com/article/10.1186/s12882-019-1458-z
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