Article
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
The Journal of steroid biochemistry and molecular biology - 1 Jan 2017
Dumic Katja K, Grubic Zorana, Yuen Tony, Wilson Robert C, Kusec Vesna, Barisic Ingeborg, Stingl Katarina, Sansovic Ivona, Skrabic Veselin, Dumic Miroslav, New Maria I
Abstract excerpt
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is caused by mutation in the CYP21A2 gene. The frequency and spectrum of CYP21A2 mutations and genotype-phenotype correlations among different populations are variable. Aim of this study was to define mutation frequency and spectrum of CYP21A2 gene mutations in patients with classical 21-hydroxylase deficiency (21OHD) and their family members in...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Child, Preschool
- Cohort Studies
- Croatia
- Female
- Genetic Association Studies
- Genotype
- HLA Antigens