Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

• Main Authors: Carla Caffarelli (Author), Stefano Gonnelli (Author), Maria Dea Tomai Pitinca (Author), Silvia Camarri (Author), Antonella Al Refaie (Author), Joussef Hayek (Author), Ranuccio Nuti (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific...