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
41469707 (PubMed )
Supplement: 13073_2025_1594_MOESM1_ESM.pdf
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center.
Faradz SMH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023
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
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
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
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
A simple method for gene phasing using mate pair sequencing.
Cradic KW et al.
Bmc Medical Genetics, 2014
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Ezquieta B et al.
Prenatal Diagnosis, 2010
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB et al.
Bmc Medical Genetics, 2010
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