Associated Papers
[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
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Seo J et al.
International Journal of Molecular Sciences, 2023
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Robevska G et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism.
Han Y et al.
Nature Communications, 2021
Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.
Xiao Q et al.
Nature Communications, 2020
Structure of human steroid 5α-reductase 2 with anti-androgen drug finasteride.
Xiao Q et al.
Research Square, 2020
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Andonova S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M et al.
International Journal of Andrology, 2011
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994