Associated Papers
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS et al.
Clinical Endocrinology, 2020
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L et al.
Clinical Biochemistry, 2019
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
de Paula Michelatto D et al.
International Journal of Endocrinology, 2016
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