Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
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...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-10-01T00:00:00Z.
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