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Keywords: Hypercalcemia
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Journal Articles
Neonatal Hypercalcemia due to a Homozygous Mutation in the Calcium-Sensing Receptor: Failure of Cinacalcet
Available to PurchaseSubject Area:
Women's and Children's Health
Eduardo García Soblechero, María Teresa Ferrer Castillo, Belén Jiménez Crespo, María Luisa Domínguez Quintero, Concepción González Fuentes
Journal:
Neonatology
Neonatology (2013) 104 (2): 104–108.
Published Online: 28 June 2013
... not been previously described. A deletion in exon 5 (c.1392_1404del13) of the gene causes a loss of function of the receptor, which results in neonatal severe hyperparathyroidism and an ensuing extreme hypercalcemia. In a case of homozygosis of the CASR gene, the use of cinacalcet is the second reported...