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

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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 syndrome caused by NUP93 mutation. Conclusions: NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.

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Sandokji, I., Marquez, J., Ji, W., Zerillo, C. A., Konstantino, M., Lakhani, S. A., … Warejko, J. K. (2019). Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: A case report. BMC Nephrology, 20(1). https://doi.org/10.1186/s12882-019-1458-z

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