Associated Papers
Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.
Dubey S et al.
Indian Journal of Pediatrics, 2026
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 clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.
Chong H et al.
Frontiers in Endocrinology, 2025
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R et al.
Frontiers in Endocrinology, 2023
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.
Arriba M et al.
Clinical Genetics, 2021
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Gangodkar P et al.
Endocrine, 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
Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.
Karagün E et al.
International Journal of Dermatology, 2020
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Pallan PS et al.
Molecular Endocrinology (baltimore, Md.), 2015
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