Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
This study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-reductase 2 (SRD5A2) deficiency and 46,XY disorders of sex development (DSD). Whole-exon sequencing revealed 28 variants of SRD5A2, and further analysis identified seven novel mutants. The preponderance of variants...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-03-01
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| Series: | Asian Journal of Andrology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/aja202469 |
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