Article
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2008
Gbadegesin Rasheed, Hinkes Bernward G, Hoskins Bethan E, Vlangos Christopher N, Heeringa Saskia F, Liu Jinhong, Loirat Chantal, Ozaltin Fatih, Hashmi Seema, Ulmer Francis, Cleper Roxanna, Ettenger Robert, Antignac Corinne, Wiggins Roger C, Zenker Martin, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND AND OBJECTIVES: Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides syndromic DMS, isolated (non-syndromic) DMS (IDMS) has been described. The etiology and pathogenesis of DMS is not understood. We recently identified by positional cloning recessive mutations...
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