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
Genotype-Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency.
Gui T et al.
International Journal of General Medicine, 2022
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Fan L et al.
Molecular Genetics & Genomic Medicine, 2020
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
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Zhang W et al.
Molecular Genetics & Genomic Medicine, 2019
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.
Nixon R et al.
Human Reproduction (oxford, England), 2017
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