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Bing-Bing Shi

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Open access Sep 2026

Clinical characteristics and genotype–phenotype correlation analysis in 279 patients with 5α-reductase type 2 deficiency

5α-Reductase type 2 deficiency (5α-RD2) is an autosomal recessive differences/disorders of sex development caused by SRD5A2 gene mutations, characterized by impaired testosterone-to-dihydrotestosterone conversion and highly heterogeneous clinical phenotypes. The genotype-phenotype correlation of 5α-RD2 remains...

Kun Wang, Bing-Bing Shi, Li-Li Huang et al. · 0 citations

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