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
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Claps A et al.
Scientific Reports, 2025
40640193 (PubMed )
Supplement: 41598_2025_3799_MOESM1_ESM.docx
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
Costa S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ et al.
International Journal of Molecular Sciences, 2021
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
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2019
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Elmougy F et al.
Annals of the New York Academy of Sciences, 2018
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
Liu J et al.
Molecular Medicine Reports, 2018
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M et al.
European Journal of Human Genetics : Ejhg, 2017
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Oriola J et al.
Clinical Chemistry, 1997
[Unique steroid 21-hydroxylase gene CYP21A2 polymorphism in patients with hyperandrogenism signs].
Barannik AP et al.
Bioorganicheskaia Khimiia, 0
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