AP2S1, CASR, CDC73, CDKN1B, MEN1 AND RET GENE ANALYSIS IN FAMILIAL ISOLATED HYPERPARATHYROIDISM Primary hyperparathyroidism is characterised by hypercalcaemia, inappropriately high parathyroid hormone (PTH) levels and isolated parathyroid tumours. Hereditary primary hyperparathyroidism may develop as a solitary endocrinopathy or as part of the Multiple Endocrine Neoplasia type 1 (MEN1) or hereditary hyperparathyroidism-jaw tumour (HPT-JT) syndromes. MEN1 disease-causing […]
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