A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report

• Asıl Yazarlar: Dan Zhang (Yazar), Dajia Wang (Yazar), Yajie Tong (Yazar), Mingyu Li (Yazar), Lingzhe Meng (Yazar), Qiutong Song (Yazar), Ying Xin (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2023-04-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary. Case presentation We report a 13-year-old Chinese adolesce...