Associated Papers
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
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
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
Tantirukdham N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Pignatelli D et al.
Frontiers in Endocrinology, 2019
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
Dumic KK et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Blanché H et al.
Human Genetics, 1997
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