Article
Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 2012
Choi J-H, Jin H-Y, Lee B H, Ko J M, Lee J-J, Kim G-H, Jung C-W, Lee J, Yoo H-W
Abstract excerpt
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal hyperplasia (CAH) were included. Molecular anal...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- DNA Mutational Analysis
- Female
- Gene Deletion
- Humans
- Infant, Newborn
- Ligase Chain Reaction
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase