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
Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.
Zhang X et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
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
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
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
Vu CD et al.
Advances in Experimental Medicine and Biology, 2020
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
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E et al.
Human Reproduction Update, 2017
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
Livadas S et al.
Clinical Endocrinology, 2015
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
Gidlöf S et al.
The Lancet. Diabetes & Endocrinology, 2013
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Trakakis E et al.
Fertility and Sterility, 2011
Salt-wasting congenital adrenal hyperplasia: genotypical peculiarities in a Sicilian ethnic group.
Wasniewska M et al.
Journal of Endocrinological Investigation, 2008
Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
Di Pasquale L et al.
Journal of Endocrinological Investigation, 2007
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White PC et al.
Endocrine Reviews, 2000
Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.
Ohlsson G et al.
Human Mutation, 1999
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
Wedell A
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0