Article
CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
Journal of clinical research in pediatric endocrinology - 1 Jan 2009
Baş Firdevs, Kayserili Hülya, Darendeliler Feyza, Uyguner Oya, Günöz Hülya, Yüksel Apak Memnune, Atalar Fatmahan, Bundak Rüveyde, Wilson Robert C, New Maria I, Wollnik Bernd, Saka Nurçin
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene. OBJECTIVE: Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients. METHODS: Molecular analysis of the CYP21A2 gene was performed for the detection of the...
Topics
- Adrenal Hyperplasia, Congenital
- Child
- DNA Mutational Analysis
- Female
- Gene Frequency
- Genetic Association Studies
- Humans
- Male
- Mutation
- Steroid 21-Hydroxylase