共 50 条
- [31] A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2013, 26 (7-8): : 765 - 766
- [32] Non classic congenital adrenal hyperplasia caused by mutations in CYP21A2 [J]. HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 473 - 473
- [33] Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia [J]. Molecular Diagnosis & Therapy, 2017, 21 : 663 - 675
- [39] Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (07):