Associated Papers
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
Tantirukdham N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.
Kurzyńska A et al.
Hormones (athens, Greece), 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
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
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations.
Lin B et al.
Physical Chemistry Chemical Physics : Pccp, 2020
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
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