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
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
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
Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.
Hočevar K et al.
Frontiers in Pharmacology, 2019
30930780 (PubMed )
Supplement: Table_6.xlsx › Sheet1
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Mutation analysis of the CYP21A2 gene in the Iranian population.
Rabbani B et al.
Genetic Testing and Molecular Biomarkers, 2012
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Yu Y et al.
Genetic Testing and Molecular Biomarkers, 2011
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
Vrzalová Z et al.
International Journal of Molecular Medicine, 2010
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