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Yue-Ni Zhang

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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. · 0 citations

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