Associated Papers
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.
Jing H et al.
Clinical Genetics, 2026
[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene].
Kalinchenko NY et al.
Problemy Endokrinologii, 2025
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
Kulkarni V et al.
Molecular Human Reproduction, 2023
Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.
Xiao Q et al.
Nature Communications, 2020
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Arya S et al.
European Journal of Endocrinology, 2020
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].
Song YN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
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