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  • Title: Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.
    Author: Rodríguez-Soriano J, Vallo A, Quintela MJ, Pérez de Nanclares G, Bilbao JR, Castaño L.
    Journal: Pediatr Nephrol; 2001 Sep; 16(9):748-51. PubMed ID: 11511994.
    Abstract:
    A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria and nephrocalcinosis from early infancy. His 40-year-old father also had hypercalcemia and hypercalciuria. In both individuals serum values of intact parathyroid hormone (PTH) were repeatedly normal. Although these findings suggest a functional abnormality of the calcium-sensing receptor (CaR), no mutations in coding regions of the CaR gene could be demonstrated.
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