Article
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Endocrine - 1 Aug 2020
Kocova Mirjana, Anastasovska Violeta, Falhammar Henrik
Abstract excerpt
Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations...
Topics
- Adrenal Hyperplasia, Congenital
- Europe
- Genotype
- Humans
- Mexico
- Mutation
- Phenotype
- Steroid 21-Hydroxylase