Next generation sequencing identifies a novel variant in the NR5A1 gene in a 46,XY female with complete gonadal dysgenesis
To report a novel variant in the NR5A1 gene as a cause of 46,XY complete gonadal dysgenesis (Swyer syndrome). A 12.5-year-old prepubertal girl presented with the complaint of short stature and was evaluated in our clinic after pelvic ultrasonography revealed an absent uterus and ovaries. In puberta...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Aydın Pediatric Society
2025-12-01
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| Serier: | Trends in Pediatrics |
| Fag: | |
| Online adgang: | https://trendspediatrics.com/article/view/252 |
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