Associated Papers
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D et al.
Genome Medicine, 2025
Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Schernthaner-Reiter MH et al.
European Journal of Endocrinology, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study.
Polat S et al.
Journal of Endocrinological Investigation, 2023
The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.
Zhao Z et al.
Frontiers in Endocrinology, 2022
Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.
Kluge ML et al.
European Journal of Endocrinology, 2020
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Milacic I et al.
Journal of Endocrinological Investigation, 2015
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
Kirac D et al.
Annals of Human Genetics, 2014
Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.
Goossens K et al.
Clinical Endocrinology, 2009
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
Concolino P et al.
Bmc Medical Genetics, 2009
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Zhang HJ et al.
Clinical Endocrinology, 2009
Gene conversion: mechanisms, evolution and human disease.
Chen JM et al.
Nature Reviews. Genetics, 2007
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
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Araujo RS et al.
Clinical Endocrinology, 2005
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
Zeng X et al.
Molecular Genetics and Metabolism, 2004
Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency.
Bobba A et al.
Human Mutation, 2000