Article
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.
Frontiers in endocrinology - 1 Jan 2023
Tang Peng, Zhang Jun, Peng Song, Wang Yapeng, Li Haoyang, Wang Ze, Zhang Yao, Huang Yiqiang, Xu Jing, Zhang Dianzheng, Liu Qiuli, Wang Luofu, Lan Weihua, Jiang Jun
Abstract excerpt
Introduction: 21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations. Methods: A total of 15 individuals from three unrelated families were included in this study. Target Capture-Based Deep Sequencing and Restriction Fragment Length...
Topics
- Humans
- Adrenal Hyperplasia, Congenital
- Steroid 21-Hydroxylase
- Genotype
- Genetic Association Studies