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• W4200105611 startingPage "483" @default.
• W4200105611 abstract "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 to facilitate the most appropriate management of the patient, with regard to both the calcium-related phenotype and any associated clinical features, and also to allow the identification of other family members who may be at risk of disease. Genetic testing forms an important tool in the investigation of PHPT and HP patients and is usually reserved for those deemed to be an increased risk of a monogenic disorder. However, identifying those suitable for testing requires a thorough clinical evaluation of the patient, as well as an understanding of the diversity of relevant phenotypes and their genetic basis. This review aims to provide an overview of the genetic basis of monogenic metabolic bone and mineral disorders, primarily focusing on those associated with abnormal calcium homeostasis, and aims to provide a practical guide to the implementation of genetic testing in the clinic." @default.
• W4200105611 created "2021-12-31" @default.
• W4200105611 creator A5022998070 @default.
• W4200105611 creator A5038969755 @default.
• W4200105611 creator A5063333149 @default.
• W4200105611 creator A5090927166 @default.
• W4200105611 date "2021-12-21" @default.
• W4200105611 modified "2023-10-10" @default.
• W4200105611 title "Genetics of monogenic disorders of calcium and bone metabolism" @default.
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