D. Shoback, Clinical practice. Hypoparathyroidism. N Engl. J. Med. 359, 391–403 (2008). https://doi.org/10.1056/NEJMcp0803050

Article  CAS  PubMed  Google Scholar 

E.S. Husebye, M.S. Anderson, O. Kämpe, Autoimmune polyendocrine syndromes. N Engl. J. Med. 378, 1132–1141 (2018). https://doi.org/10.1056/NEJMra1713301

Article  CAS  PubMed  PubMed Central  Google Scholar 

A.A. Khan, J.P. Bilezikian, M.L. Brandi, B.L. Clarke, N.J. Gittoes, J.L. Pasieka et al., Evaluation and Management of Hypoparathyroidism Summary Statement and Guidelines from the Second International Workshop. J Bone Miner Res. 2022; 37: 2568–2585. https://doi.org/10.1002/jbmr.4691

R.J. Gordon, M.A. Levine, Genetic disorders of parathyroid development and function. Endocrinol. Metab. Clin. North. Am. 47, 809–823 (2018). https://doi.org/10.1016/j.ecl.2018.07.007

Article  PubMed  PubMed Central  Google Scholar 

M.R. Bowl, M.A. Nesbit, B. Harding, E. Levy, A. Jefferson, E. Volpi et al., An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J. Clin. Invest. 115, 2822–2831 (2005). https://doi.org/10.1172/JCI24156

Article  CAS  PubMed  PubMed Central  Google Scholar 

K.P. Schlingmann, S. Weber, M. Peters, N.L. Niemann, H. Vitzthum, K. Klingel et al., Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat. Genet. 31, 166–170 (2002). https://doi.org/10.1038/ng889

Article  CAS  PubMed  Google Scholar 

L. Underbjerg, T. Sikjaer, L. Mosekilde, L. Rejnmark, The epidemiology of nonsurgical hypoparathyroidism in denmark: A nationwide case finding study. J. Bone Min. Res. 30, 1738–1744 (2015). https://doi.org/10.1002/jbmr.2501

Article  CAS  Google Scholar 

M.C. Astor, K. Lovås, A. Debowska, E.F. Eriksen, J.A. Evang, C. Fossum et al., Epidemiology and Health-Related quality of life in hypoparathyroidism in Norway. J. Clin. Endocrinol. Metab. 101, 3045–3053 (2016). https://doi.org/10.1210/jc.2016-1477

Article  CAS  PubMed  PubMed Central  Google Scholar 

S.Y. Park, Y.S. Eom, B. Choi, H.S. Yi, S.H. Yu, K. Lee et al., Genetic and clinical characteristics of Korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. J. Korean Med. Sci. 28, 1489–1495 (2013). https://doi.org/10.3346/jkms.2013.28.10.1489

Article  CAS  PubMed  PubMed Central  Google Scholar 

T. Mitsui, S. Narumi, M. Inokuchi, K. Nagasaki, M. Nakazawa, G. Sasaki et al., Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations. J. Clin. Endocrinol. Metab. 99, E2421–E2428 (2014). https://doi.org/10.1210/jc.2014-2174

Article  CAS  PubMed  Google Scholar 

J.H. Kim, Y.L. Shin, S. Yang, C.K. Cheon, J.H. Cho, B.H. Lee et al., Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism. Clin. Endocrinol. (Oxf). 83, 790–796 (2015). https://doi.org/10.1111/cen.12944

Article  CAS  PubMed  Google Scholar 

G. Marcucci, L. Cianferotti, S. Parri, P. Altieri, E. Arvat, S. Benvenga et al., HypoparaNet: A database of chronic hypoparathyroidism based on expert Medical-Surgical centers in Italy. Calcif Tissue Int. 103, 151–163 (2018). https://doi.org/10.1007/s00223-018-0411-7

Article  CAS  PubMed  Google Scholar 

S. Gronskaia, G. Melnichenko, L. Rozhinskaya, T. Grebennikova, E. Mamedova, E. Pigarova et al., A registry for patients with chronic hypoparathyroidism in Russian adults. Endocr. Connect. 9, 627–636 (2020). https://doi.org/10.1530/EC-20-0219

Article  CAS  PubMed  PubMed Central  Google Scholar 

Y. Wang, M. Nie, O. Wang, Y. Li, Y. Jiang, M. Li et al., Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by Next-Generation sequencing combined with TBX1-MLPA. J. Bone Min. Res. 34, 2254–2263 (2019). https://doi.org/10.1002/jbmr.3854

Article  CAS  Google Scholar 

Y.P. Li, O. Wang, T.T. Quan, W.B. Xia, Y. Jiang, M. Li et al., A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing. Zhonghua Nei Ke Za Zhi. 55, 604–608 (2016). https://doi.org/10.3760/cma.j.issn.0578-1426.2016.08.007

Article  CAS  PubMed  Google Scholar 

J. Li, L. Wang, Y. Chen, Y. Yang, J. Liu, K. Liu et al., Visible light excited ratiometric-GECIs for long-term in-cellulo monitoring of calcium signals. Cell. Calcium. 87, 102165 (2020). https://doi.org/10.1016/j.ceca.2020.102165

Article  CAS  PubMed  Google Scholar 

S. Zheng, G. Ma, L. He, T. Zhang, J. Li, X. Yuan et al., Identification of molecular determinants that govern distinct STIM2 activation dynamics. PLoS Biol. 16, e2006898DOI (2018). https://doi.org/10.1371/journal.pbio.2006898

Article  CAS  Google Scholar 

B.L. Clarke, C.L. Leibson, J.A. Emerson, J.E. Ransom, H. Lagast, Co-morbid medical conditions associated with prevalent hypoparathyroidism: a population-based study. OSTEOPOROSIS INTERNATIONAL. 236 GRAYS INN RD, 6TH FLOOR, LONDON WC1X 8HL, ENGLAND: SPRINGER LONDON LTD. 2012; 23: S215-S216

Google Scholar 

L.A. Jerome, V.E. Papaioannou, DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 27, 286–291 (2001). https://doi.org/10.1038/85845

Article  CAS  PubMed  Google Scholar 

A.K. Ryan, J.A. Goodship, D.I. Wilson, N. Philip, A. Levy, H. Seidel et al., Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 34, 798–804 (1997). https://doi.org/10.1136/jmg.34.10.798

Article  CAS  PubMed  PubMed Central  Google Scholar 

J.H. Choi, Y.L. Shin, G.H. Kim, E.J. Seo, Y. Kim, I.S. Park et al., Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm. Res. 63, 294–299 (2005). https://doi.org/10.1159/000086745

Article  CAS  PubMed  Google Scholar 

D.M. McDonald-McGinn, K.E. Sullivan, Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Med. (Baltim). 90, 1–18 (2011). https://doi.org/10.1097/MD.0b013e3182060469

Article  Google Scholar 

A. Habel, R. Herriot, D. Kumararatne, J. Allgrove, K. Baker, H. Baxendale et al., Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur. J. Pediatr. 173, 757–765 (2014). https://doi.org/10.1007/s00431-013-2240-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Y. Wang, O. Wang, M. Nie, Y. Li, Y. Jiang, M. Li et al., Clinical and genetic findings in a Chinese cohort of patients with digeorge Syndrome-Related hypoparathyroidism. Endocr. Pract. 26, 642–650 (2020). https://doi.org/10.4158/EP-2019-0498

Article  PubMed  Google Scholar 

J.P. Bilezikian, A. Khan, J.T. Potts, M.L. Brandi, B.L. Clarke, D. Shoback et al., Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J. Bone Min. Res. 26, 2317–2337 (2011). https://doi.org/10.1002/jbmr.483

Article  CAS  Google Scholar 

R. Dershem, C.M. Gorvin, R.P.R. Metpally, S. Krishnamurthy, D.T. Smelser, F.M. Hannan et al., Familial hypocalciuric hypercalcemia type 1 and Autosomal-Dominant hypocalcemia type 1: prevalence in a large healthcare population. Am. J. Hum. Genet. 106, 734–747 (2020). https://doi.org/10.1016/j.ajhg.2020.04.006

Article  CAS  PubMed  PubMed Central  Google Scholar 

F.M. Hannan, V.N. Babinsky, R.V. Thakker, Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J. Mol. Endocrinol. 57, R127–R142 (2016). https://doi.org/10.1530/JME-16-0124

Article  CAS  PubMed  PubMed Central  Google Scholar 

K. Leach, F.M. Hannan, T.M. Josephs, A.N. Keller, T.C. Moller, D.T. Ward et al., International union of basic and clinical pharmacology. CVIII. Calcium-Sensing receptor nomenclature, pharmacology. and function. Pharmacol. Rev. 72, 558–604 (2020). https://doi.org/10.1124/pr.119.018531

Article  CAS  PubMed  Google Scholar 

F. Raue, J. Pichl, H.G. Dörr, D. Schnabel, P. Heidemann, G. Hammersen et al., Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalca