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      Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.

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          Abstract

          Inherited metabolic disorders associated with nephrocalcinosis are rare conditions. The aim of this study was to identify the genetic cause of an Israeli-Arab boy from a consanguineous family with severe nephrocalcinosis and kidney insufficiency.

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          Author and article information

          Journal
          Pediatr. Nephrol.
          Pediatric nephrology (Berlin, Germany)
          Springer Nature
          1432-198X
          0931-041X
          Dec 2016
          : 31
          : 12
          Affiliations
          [1 ] Department of Nephrology and Hypertension, The Chaim Sheba Medical Center, Tel-Hashomer, Israel. Dganit.Dinour@sheba.health.gov.il.
          [2 ] Institute of Pediatric Nephrology, Schneider Children's Medical Center, Petah Tiqwa, Israel.
          [3 ] Department of Nephrology and Hypertension, The Chaim Sheba Medical Center, Tel-Hashomer, Israel.
          [4 ] Institute of Physiology, University of Zurich, Zurich, Switzerland.
          [5 ] Cancer Research Center, The Chaim Sheba Medical Center, Tehomer, Israel.
          Article
          10.1007/s00467-016-3443-0
          10.1007/s00467-016-3443-0
          27378183
          c8727299-7d21-4a9a-b809-3c959fb5fd36
          History

          NaPiIIa,Nephrocalcinosis,SLC34A1 mutation,Vitamin D
          NaPiIIa, Nephrocalcinosis, SLC34A1 mutation, Vitamin D

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