Associated Papers
Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.
Kumar A et al.
Archives of Sexual Behavior, 2025
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
Chen H et al.
Biology of Sex Differences, 2024
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.
Zhang W et al.
Andrology, 2024
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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
Han B et al.
Biomed Research International, 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
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
Yang Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M et al.
International Journal of Andrology, 2011
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Nie M et al.
Molecular Human Reproduction, 2011
A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.
Zhang M et al.
Hormone Research in Paediatrics, 2011
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
Ko JM et al.
Hormone Research in Paediatrics, 2010
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism.
Kim SH et al.
Fertility and Sterility, 2006