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- [28] A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 566 - 567
- [30] Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients HORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (02): : 119 - 128