Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93 : a case report
BMC Nephrology(2019)
摘要
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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关键词
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Whole exome sequencing, Genetics, Inherited diseases
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