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- W142000593 abstract "This chapter discusses the genetic aspects of hyperparathyroidism as well as parathyroid cancer. Primary hyperparathyroidism is mentioned to be caused by abnormal proliferation of one or more parathyroid glands and in this disorder, the secretion of parathyroid hormone (PTH) is increased and is no longer appropriately regulated by ambient calcium levels, resulting in hypercalcemia. The most common pathologic basis of hyperparathyroidism is a solitary benign parathyroid adenoma and rarely parathyroid carcinoma. It focuses on several familial hyperthyroid syndromes: hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism and familial isolated hyperparathyroidism. A summary of the genes involved in hyperparathyroid disorders, either through acquired or germline mutation is provided. A small but important number of cases of primary hyperparathyroidism are considered to be familial and associated with highly penetrant mutations. The genes implicated in this disorder includes HRPT2, CASR, MEN1 and RET and mutational genetic testing for these genes will give information important to clinical management and improve morbidity and mortality." @default.
- W142000593 created "2016-06-24" @default.
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- W142000593 date "2010-01-01" @default.
- W142000593 modified "2023-09-23" @default.
- W142000593 title "Genetics of Hyperparathyroidism Including Parathyroid Cancer" @default.
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- W142000593 doi "https://doi.org/10.1016/b978-0-12-374430-2.00012-2" @default.
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