Associated Papers
Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.
Ramos L
Plos One, 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
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
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Byers HM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Maimoun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Practical approach to steroid 5alpha-reductase type 2 deficiency.
Cheon CK
European Journal of Pediatrics, 2011
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
Vilchis F et al.
Journal of Human Genetics, 2008
[Steroid 5alpha-reductase deficiency].
Tohda A
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
Vilchis F et al.
Journal of Andrology, 0