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
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ et al.
Molecular Diagnosis & Therapy, 2017
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
de Carvalho DF et al.
European Journal of Endocrinology, 2016
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Finkielstain GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Friães A et al.
Molecular Genetics and Metabolism, 2006
Select a paper to view details