Article
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Nephron - 1 Jan 2016
Gigante Maddalena, Santangelo Luisa, Diella Sterpeta, Caridi Gianluca, Argentiero Lucia, D''Alessandro Maria Michela, Martino Marida, Stea Emma Diletta, Ardissino Gianluigi, Carbone Vincenza, Pepe Silvana, Scrutinio Domenico, Maringhini Silvio, Ghiggeri Gian Marco, Grandaliano Giuseppe, Giordano Mario, Gesualdo Loreto
Abstract excerpt
BACKGROUND/AIMS: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of...
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