pseudohypoparathyroidism,PHP
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文献评审日期:2021-05-31
1. Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, et al. Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun. 101 (6):2284-99.
2. Elli, F. M. et al. Pseudohypoparathyroidism type Iaand pseudo-pseudohypoparathyroidism: the growingspectrum of GNAS inactivating mutations. Hum.Mutat. 34, 411–416 (2013).
3. Elli, F. M. et al. The prevalence of GNAS deficiencyrelated diseases in a large cohort of patientscharacterized by the EuroPHP network. J. Clin.Endocrinol. Metab. 101, 3657–3668 (2016).
2018 国际共识声明:假性甲状旁腺功能减退症及其相关疾病的诊断和管理