Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

• Váldodahkkit: Manuela Capozza (Dahkki), Iolanda Chinellato (Dahkki), Vito Guarnieri (Dahkki), Natascia Di lorgi (Dahkki), Maria Accadia (Dahkki), Cristina Traggiai (Dahkki), Girolamo Mattioli (Dahkki), Antonio Di Mauro (Dahkki), Nicola Laforgia (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2018-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutati...