Article
Genetics of monogenic disorders of calcium and bone metabolism.
Clinical endocrinology - 1 Oct 2022
Newey Paul J, Hannan Fadil M, Wilson Abbie, Thakker Rajesh V
Abstract excerpt
Disorders of calcium homeostasis are the most frequent metabolic bone and mineral disease encountered by endocrinologists. These disorders usually manifest as primary hyperparathyroidism (PHPT) or hypoparathyroidism (HP), which have a monogenic aetiology in 5%-10% of cases, and may occur as an isolated endocrinopathy, or as part of a complex syndrome. The recognition and diagnosis of these disorders is important...
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