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Yan-Ning Song

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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. · 0 citations

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