Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)
J Pediatr Endocrinol Metab. 2025 Jan 23. doi: 10.1515/jpem-2024-0569. Online ahead of print. ABSTRACT OBJECTIVES: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by …