Article
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2001
Mathur R, Menon P S, Kabra M, Goyal R K, Verma I C
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is the commonest cause of female pseudohermaphroditism. It is most often due to steroid 21-hydroxylase deficiency resulting from mutations in the CYP21 gene. This study was conducted to characterize mutations in the CYP21 gene, determine their frequency and co...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- DNA Mutational Analysis
- Female
- Gene Deletion
- Genotype
- Heterozygote
- Homozygote
- Humans
- India
- Male
- Mutation