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MeSH:(Adrenal Hyperplasia, Congenital/genetics*)

1.Clinical applications of molecular genetics: the model of congenital adrenal hyperplasia.

Kah Yin LOKE

Annals of the Academy of Medicine, Singapore 2008;37(12 Suppl):18-14

2.Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency.

Yueqing SU ; Hanqiang CHEN ; Wenbin ZHU ; Jing WANG ; Jinfu ZHOU ; Yao CHEN ; Hong ZHAO ; Yinglin ZENG ; Feng LIN ; Honghua ZHANG ; Qingying LIN

Chinese Journal of Medical Genetics 2016;33(6):786-791

3.Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency.

Ruizhi ZHENG ; Li ZHANG ; Qian YUAN ; Hua MAN ; Junpeng YANG ; Yanfang WANG ; Ziying HU ; Huifeng ZHANG

Chinese Journal of Medical Genetics 2019;36(2):120-123

4.Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency.

Ruizhi ZHENG ; Ziying HU ; Junpeng YANG ; Yun ZHANG ; Yanfang WANG ; Qian YUAN ; Jiada LI

Chinese Journal of Medical Genetics 2019;36(9):877-881

5.Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

Yu SUN ; Lingqian WU ; Lei YE ; Wenjuan QIU ; Yongguo YU ; Xuefan GU

Chinese Journal of Medical Genetics 2023;40(7):769-780

6.Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency.

Yanjie XIA ; Shiyue MEI ; Shuang HU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2019;36(2):103-107

7.Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia.

Wan Qi ZHENG ; Ying DUAN ; Bing XIAO ; Li Li LIANG ; Yu XIA ; Zhu Wen GONG ; Yu SUN ; Hui Wen ZHANG ; Lian Shu HAN ; Rui Fang WANG ; Yi YANG ; Xia ZHAN ; Yong Guo YU ; Xue Fan GU ; Wen Juan QIU

Chinese Journal of Pediatrics 2022;60(10):1066-1071

8.Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations.

Qianjun ZHANG ; Wen LI ; Shuangfei LI ; Weilin TANG ; Luyun LI ; Guangxiu LU

Journal of Southern Medical University 2012;32(5):669-672

9.Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia.

Xiao-Mei LIN ; Ben-Qing WU ; Jin-Jie HUANG ; Bo LI ; Yi FAN ; Lin-Hua LIN ; Qiu-Xuan YAO ; Wen-Yuan WU ; Lian YU

Chinese Journal of Contemporary Pediatrics 2013;15(11):942-947

10.Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China.

Jing LI ; Yan-Fei LUO ; Mireguli MAIMAITI

Chinese Journal of Contemporary Pediatrics 2016;18(2):141-146

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