Article
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Genetic testing and molecular biomarkers - 1 Mar 2011
Yu Yongguo, Wang Jian, Huang Xiaodong, Wang Ying, Yang Peirong, Li Juan, Tsuei Sian Hsiang-Te, Shen Yongnian, Fu Qihua
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we investigated the molecular defects of 25 Chinese pedigrees with 21-hydroxylase deficiency (21-OHD). Diagnosis of the probands...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Asian People
- Child
- Child, Preschool
- Female
- Gene Frequency
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Models, Molecular
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase