The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.

Abstract excerpt

PURPOSE: The etiology of 46, XY disorders of sex development (46, XY DSD) is complex, and studies have shown that different series of patients with 46, XY DSD has different genetic spectrum. In this study, we aimed to investigate the underlying genetic etiology in a Chinese series of patients with 46, XY DSD by whole exome sequencing (WES). METHODS: Seventy patients with 46, XY DSD were enrolled from the Peking...

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• 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
• Disorder of Sex Development, 46,XY
• East Asian People
• Receptors, Androgen
• Receptors, Antigen