Recombinant Parathyroid Hormone Therapy For Neonatal Hypoparathyroidism Caused by CASR Gene Mutation
收藏NIAID Data Ecosystem2026-05-10 收录
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资源简介：
The calcium-sensing receptor (CaSR) maintains calcium concentration by regulating the secretion of parathyroid hormone (PTH) and urinary calcium excretion. Gain-of-function mutations in the CASR gene can lead to autosomal dominant hypocalcemia type 1 (ADH-1 or hypoparathyroidism), which is a rare cause of primary hypoparathyroidism and hypocalcemia.
创建时间：
2026-01-26
