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[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].

Zhonghua nei ke za zhi - 1 Jan 2022

Yang J, Wang Y B, Nie M, Jiang Y, Li M, Xia W B, Xing X P, Wang O

Abstract excerpt

Objective: To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation. Methods: A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital. Clinical data and biochemical indices of the 5 patients were...

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PMID: 34979772
DOI: 10.3760/cma.j.cn112138-20210519-00356

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