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ea0099rc2.1 | Rapid Communications 2: Calcium and Bone | Part I | ECE2024

Genetics of congenital hypoparathyroidism and pseudohypoparathyroidism: results of a multigenic screening in an Italian cohort of affected patients

Marini Francesca , Giusti Francesca , Cetani Filomena , Mantovani Giovanna , Garagnani Paolo , Brandi Maria Luisa

Introduction: Hypoparathyroidism (HPT), pseudohypoparathyroidism (PHP), and end-organ parathyroid hormone (PTH)-resistance are rare metabolic disorders characterized by low serum calcium and increased serum phosphorus due to a PTH-deficient or resistant state. Various genes/loci have been identified as responsible for the development of congenital/familial forms of HPT, PHP and related diseases.Patients and Methods: A total of 39 patients with a clinical...

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Genetics of congenital hypoparathyroidism and pseudohypoparathyroidism: results of a multigenic screening in an Italian cohort of affected patients

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