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
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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Jia W et al.
Endocrine Journal, 2018
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
Wang H et al.
Human Genetics, 2018
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Chan AO et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2015
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan AO et al.
Clinical Chemistry, 2013
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
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Cheng T et al.
Asian Journal of Andrology, 0
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