NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations
Lele Li, Di Mao, Xiaoqiao Li, Yanning Song, Xiaoya Ren, Chunxiu Gong · 2026
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Description
IntroductionNR5A1 variants are among the most frequent monogenic causes of disorders of sex development (DSD). However, genotype–phenotype correlations remain unclear, and oligogenic contributions to variability are underexplored in non-consanguineous Chinese populations.MethodsIn this single-center, retrospective cohort study, we evaluated clinical, hormonal, and genetic features of a single-center Chinese pediatric cohort with NR5A1 variants.
Catalog record
| CREATOR | Lele Li, Di Mao, Xiaoqiao Li, Yanning Song, Xiaoya Ren, Chunxiu Gong |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 39 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |