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
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
38168586 (PubMed )
Supplement: mmc1.pdf
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Zheng GY et al.
Journal of Endocrinological Investigation, 2023
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
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
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