Article
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Human mutation - 1 Jan 2018
Simonetti Leandro, Bruque Carlos D, Fernández Cecilia S, Benavides-Mori Belén, Delea Marisol, Kolomenski Jorge E, Espeche Lucía D, Buzzalino Noemí D, Nadra Alejandro D, Dain Liliana
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, rangin...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Databases, Genetic
- Genetic Association Studies
- Genetic Variation
- Genotype
- Humans
- Mutation
- Phenotype
- Steroid 21-Hydroxylase