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| Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation | |
| Hae In Lee, Ahreum Kwon, Jung Hwan Suh, Han Saem Choi, Kyung Chul Song, Hyun Wook Chae, Ho-Seong Kim | |
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Ann Pediatr Endocrinol Metab. 2021;26(1):66-70. Published online March 31, 2021 DOI: https://doi.org/10.6065/apem.2040184.092 |
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation Annals of Pediatric Endocrinology & Metabolism. 2021;26(1):66-70  Novel CYP17A1 mutation in a Japanese patient with combined 17α-hydroxylase/17,20-lyase deficiency Metabolism. 2010;59(2):275-278 17α-Hydroxylase/17, 20-Lyase Deficiency Practical Clinical Endocrinology. 2021;359-366 17α-Hydroxylase/17, 20-Lyase Deficiency☆ Reference Module in Biomedical Sciences. 2014; Genetic deficiencies of cytochrome P450c17 (CYP17A1) combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency Genetic Steroid Disorders. 2023;95-110 A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency Frontiers in Genetics. 2019;10: Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients Gene. 2013;516(2):345-350 Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1–6 Deletion (Founder Mutation) in the <b><i>CYP17A1</i></b>Gene: 20-Year Single-Center Experience Sexual Development. 2023;17(1):43-50 A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency Journal of Endocrinological Investigation. 2009;32(4):322-324 Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency Metabolism. 2011;60(10):1386-1391 |
