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Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
- Source :
-
BMC nephrology [BMC Nephrol] 2019 Jul 17; Vol. 20 (1), pp. 271. Date of Electronic Publication: 2019 Jul 17. - Publication Year :
- 2019
-
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.<br />Case Presentation: Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation.<br />Conclusions: NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.
Details
- Language :
- English
- ISSN :
- 1471-2369
- Volume :
- 20
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC nephrology
- Publication Type :
- Academic Journal
- Accession number :
- 31315584
- Full Text :
- https://doi.org/10.1186/s12882-019-1458-z