Associated Papers
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Seo J et al.
International Journal of Molecular Sciences, 2023
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L et al.
Italian Journal of Pediatrics, 2022
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Skordis N et al.
Journal of Endocrinological Investigation, 2010
A girl with tomboy behavior: lesson from misdiagnosis in a baby with ambiguous genitalia.
Dati E et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
Nicoletti A et al.
Clinical Endocrinology, 2005
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development.
Li SP et al.
Asian Journal of Andrology, 0