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

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...

Full description

Bibliographic Details
Main Authors: Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Nephrology
Subjects:
Steroid-resistant nephrotic syndrome
Focal segmental glomerulosclerosis
Whole exome sequencing
Genetics
Inherited diseases
Online Access:http://link.springer.com/article/10.1186/s12882-019-1458-z

Internet

http://link.springer.com/article/10.1186/s12882-019-1458-z

Similar Items