Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1)
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Objectives: Inactivating parathyroid hormone (PTH)/PTHrP Signalling Disorder Type 1 (iPPSD1) is a rare genetic condition caused by loss-of-function mutations in the PTH1R gene, presenting with PTH resistance and variable skeletal... ...
