Article
CYP21 mutations and congenital adrenal hyperplasia.
Clinical genetics - 1 May 2001
Lee H H
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder caused mainly by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene on chromosome 6p21.3. The wide range of CAH phenotypes is associated with multiple mutations known to affect 21-hydroxylase enzyme activity. To date, 56 different CYP21 mutations have been reported,...
Topics
- Adrenal Hyperplasia, Congenital
- DNA Mutational Analysis
- Humans
- Mutation
- Steroid 21-Hydroxylase