Associated Papers
Genetic and Clinical Characteristics of 185 Japanese Children With 46,XY Differences of Sex Development.
Hayashi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.
Zhang D et al.
Bmc Pediatrics, 2023
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.
Sudhakar DVS et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
Yu B et al.
Clinical Endocrinology, 2018
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Fabbri-Scallet H et al.
Human Mutation, 2018
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
Yu BQ et al.
Asian Journal of Andrology, 0
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