Associated Papers
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
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Chi DV et al.
Molecular Genetics & Genomic Medicine, 2019
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
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
27966633 (PubMed )
Supplement: srep39082-s1.pdf
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Robins T et al.
Molecular Endocrinology (baltimore, Md.), 2006
Significantly higher adrenocorticotropin-stimulated cortisol and 17-hydroxyprogesterone levels in 337 consecutive, premenopausal, caucasian, hirsute patients compared with healthy controls.
Glintborg D et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Usui T et al.
Hormone Research, 2004
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White PC et al.
Endocrine Reviews, 2000
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