Article
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.
The Journal of clinical endocrinology and metabolism - 1 Mar 2000
Krone N, Braun A, Roscher A A, Knorr D, Schwarz H P
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients....
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Cohort Studies
- DNA Mutational Analysis
- Gene Frequency
- Genotype
- Germany
- Humans
- Mutation
- Phenotype
- Predictive Value of Tests
- Steroid 21-Hydroxylase