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The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese...
On the cover: The cover image, by Maki Fukami et al., is based on the Brief Report Identical NR5A1 Missense Mutations in Two Unrelated 46, XX Individuals with Testicular Tissues, Pages 39–42, DOI 10.1002/humu.23116.
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