Article
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
American journal of human genetics - 15 Jul 2011
Ozaltin Fatih, Ibsirlioglu Tulin, Taskiran Ekim Z, Baydar Dilek Ertoy, Kaymaz Figen, Buyukcelik Mithat, Kilic Beltinge Demircioglu, Balat Ayse, Iatropoulos Paraskevas, Asan Esin, Akarsu Nurten A, Schaefer Franz, Yilmaz Engin, Bakkaloglu Ayşin
Abstract excerpt
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was...
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