Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Open Access
- 17 July 2019
- journal article
- case report
- Published by Springer Nature in BMC Nephrology
- Vol. 20 (1) , 1-5
Abstract
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. Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation. NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.Keywords
Funding Information
- National Institutes of Health (R01HL124402)
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