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Hypoparathyroidism: Genetics and Diagnosis
Journal article

Hypoparathyroidism: Genetics and Diagnosis

Abstract

This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes the clinical presentation and underlying genetic causes of the nonsurgical forms. We conducted a comprehensive literature search from January 2000 to January 2021 and included landmark articles before 2000, presenting a comprehensive update of these topics and suggesting a research agenda to improve diagnosis and, eventually, the prognosis of the disease. …

Authors

Mannstadt M; Cianferotti L; Gafni RI; Giusti F; Kemp EH; Koch CA; Roszko KL; Yao L; Guyatt GH; Thakker RV

Journal

Journal of Bone and Mineral Research, Vol. 37, No. 12, pp. 2615–2629

Publisher

Oxford University Press (OUP)

Publication Date

December 1, 2020

DOI

10.1002/jbmr.4667

ISSN

0884-0431