Associated Papers
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Zhang W et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Akcan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
Xu Y et al.
European Journal of Endocrinology, 2019
Select a paper to view details