期刊
BMC NEPHROLOGY
卷 20, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s12882-019-1458-z
关键词
Steroid-resistant nephrotic syndrome; Focal segmental glomerulosclerosis; Whole exome sequencing; Genetics; Inherited diseases
资金
- NIH/NHLBI [R01HL124402]
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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