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
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
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X et al.
Journal of Endocrinological Investigation, 2024
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P et al.
Molecular Diagnosis & Therapy, 2023
Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report.
Liang D et al.
Medicine, 2022
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 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
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Concolino P
Molecular Diagnosis & Therapy, 2019
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
[Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
Gao YJ et al.
Zhonghua Yi Xue Za Zhi, 2019
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
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Liu SY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.
Chu SY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2002