Genetic Disorders of Parathyroid Development and Function.

ABSTRACT: Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.

SUBMITTER: Gordon RJ 

PROVIDER: S-EPMC6233988 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature