Article
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
Annals of human genetics - 1 Nov 2014
Kirac Deniz, Guney Ahmet Ilter, Akcay Teoman, Guran Tulay, Ulucan Korkut, Turan Serap, Ergec Deniz, Koc Gulsah, Eren Fatih, Kaspar Elif Cigdem, Bereket Abdullah
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to cortisol. More than 90% of the cases have 21-hydroxylase deficiency (21-OHD). The clinical phenotype of the disease is classified as classic, the sever...
Topics
- Adrenal Hyperplasia, Congenital
- Amino Acid Substitution
- Case-Control Studies
- DNA Mutational Analysis
- Gene Conversion
- Gene Deletion
- Gene Duplication
- Gene Frequency
- Genotype
- Humans
- Mutation
- Phenotype
- Polymorphism, Single Nucleotide
- Steroid 21-Hydroxylase