Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

• Asıl Yazarlar: Keiko Akahoshi (Yazar), Eiji Nakagawa (Yazar), Yu-ichi Goto (Yazar), Ken Inoue (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2023-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy wit...