Author

Le-Le Li

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Sep 2026

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Functional assays alone could not explain the wide phenotypic variability observed in individuals carrying novel NR5A1 variants; however, variants located within the A-box or AF-2 domains appeared to display greater functional tolerance.

Di Mao, Le-Le Li, Li-Jun Fan et al. · Sexual Development · 0 citations

Open access Aug 2026

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations

Introduction NR5A1 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. Methods In this single-center, retrospective c...

Le-Le Li, Di Mao, Xiao-Qiao Li et al. · Frontiers in Endocrinology · 0 citations