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

作　　者：YANG Jing 杨静(Key Lab Endocrinol,Natl Health Commission,Union Translation Med Center,Dept Endocrinol,PCMC&CAMS,Beijing 100730)

机构地区：[1]Key Lab Endocrinol,Natl Health Commission,Union Translation Med Center,Dept Endocrinol,PCMC&CAMS,Beijing 100730

出　　处：《China Medical Abstracts(Internal Medicine)》2022年第2期91-92,共2页中国医学文摘（内科学分册（英文版）

摘　　要：Objective To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation.Methods A total of 5childhood-onset hypoparathyroidism patients with GATA3mutation 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 collected and analyzed retrospectively.

关 键 词：GATA3 CLINICAL PARATHYROID 

分 类 号：R582.2[医药卫生—内分泌]