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
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE 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
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
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
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Chen W et al.
Clinical Chemistry, 2012
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Blanché H et al.
Human Genetics, 1997
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