RARE VARIANTS IN TENASCIN GENES IN A COHORT OF CHILDREN WITH PRIMARY VESICOURETERIC REFLUX

摘要

BackgroundPrimary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in tenascin XB (TNXB) as a cause of PVUR with joint hypermobility.