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

Article

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

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2013

Lin Xiao-Mei, Wu Ben-Qing, Huang Jin-Jie, Li Bo, Fan Yi, Lin Lin-Hua, Yao Qiu-Xuan, Wu Wen-Yuan, Yu Lian

Abstract excerpt

CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using th...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Humans
Infant
Male
Mutation
Steroid 21-Hydroxylase

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