Article
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Clinical endocrinology - 1 Oct 2011
Marino Roxana, Ramirez Pablo, Galeano Jesica, Perez Garrido Natalia, Rocco Carlos, Ciaccio Marta, Warman Diana M, Guercio Gabriela, Chaler Eduardo, Maceiras Mercedes, Bergadá Ignacio, Gryngarten Mirta, Balbi Viviana, Pardes Esther, Rivarola Marco A, Belgorosky Alicia
Abstract excerpt
OBJECTIVE: To report genotype-phenotype correlation in a large cohort of patients. CONTEXT: Study of the CYP21A2 gene in 866 unrelated chromosomes of 21-hydroxylase deficiency in Argentinean patients with classic and nonclassic (NC) forms of congenital adrenal hyperplasia (CAH). METHODS: Eleven m...
Topics
- Adrenal Hyperplasia, Congenital
- Argentina
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Male
- Mutation
- Phenotype
- Steroid 21-Hydroxylase