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
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
Rafigh M et al.
Fetal and Pediatric Pathology, 2022
Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.
Xiao Q et al.
Nature Communications, 2020
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.
Chávez B et al.
Molecular Genetics & Genomic Medicine, 2014
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