Title : Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Pub. Date : 2022 Jan 18

PMID : 34477200






1 Functional Relationships(s)
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1 Early identification of these disease-causing variants in the children of affected and unaffected female carriers would prompt treatment with calcium and calcitriol, once PTH levels increase, thereby preventing hypocalcemia and associated complications. Calcium parathyroid hormone Homo sapiens