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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Dec 2016

Dinour Dganit, Davidovits Miriam, Ganon Liat, Ruminska Justyna, Forster Ian C, Hernando Nati, Eyal Eran, Holtzman Eli J, Wagner Carsten A

Abstract excerpt

BACKGROUND: 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. METHODS: Clinical and biochemical data of the proband and family members were obtained from both previous and recent medical charts. Genomic DNA was isolated...

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PMID: 27378183
DOI: 10.1007/s00467-016-3443-0

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FGF23

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