Article
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Sept 2022
Xia Yanjie, Shi Panlai, Gao Shanshan, Liu Ning, Zhang Huijuan, Kong Xiangdong
Abstract excerpt
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is an autosomal-recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to analyze the molecular data of 155 21-OHD patients and retrospectively investigated the common allelic mutations of CYP21A2 in 1442 Chinese 21-OHD patients. Clinical features and mutations of CYP21A2 gene in 155 unrelated 21-OHD patients were...
Topics
- Adrenal Hyperplasia, Congenital
- China
- Genotype
- Humans
- Mutation
- Phenotype
- Retrospective Studies
- Steroid 21-Hydroxylase