Associated Papers
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.
Jing H et al.
Clinical Genetics, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
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
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