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Article

[Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2021

Xu X Q, Zhou X L, Chen X F, Yuan J N, Dai Y L, Huang K, Dong G P, Wu W, Fu J F

Abstract excerpt

Objective: To analyze the patients' clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes. Methods: Twenty PHP patients were ascertained at Children's Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively...

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PMID: 33657695
DOI: 10.3760/cma.j.cn112140-20201110-01018

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