Article
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
Molecular genetics & genomic medicine - 1 Nov 2020
Liu Yang, Zheng Jie, Liu Nan, Xu Xiaowei, Zhang Xinjie, Zhang Ying, Li Guoxu, Liu Geli, Cai Chunquan, Shu Jianbo
Abstract excerpt
BACKGROUND: 21-Hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations is the most common form of congenital adrenal hyperplasia. It is an autosomal recessive disorder that results in defective synthesis of cortisol and aldosterone. The incidences of various CYP21A2 gene mutations an...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Gene Frequency
- Humans
- Infant, Newborn
- Male
- Mutation
- Phenotype
- Steroid 21-Hydroxylase