Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
Peter Zhan Tao WangChitra PrasadCarmen Inés Rodriguez CuellarGuido FillerPublished in: Pediatric nephrology (Berlin, Germany) (2018)
It is unclear if patients with OSGEP mutations with tubular symptoms rather than nephrotic syndrome should be considered a different entity. Nephrological and urological complications of OSGEP mutations can be challenging and require a multidisciplinary approach.
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