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

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

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...

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Bibliographic Details
Main Authors: Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nuti
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Rett syndrome
Methyl-CpG-binding protein 2 (MECP2)
Mutation severity
Osteoporosis
Fractures
Scoliosis
Online Access:https://doi.org/10.1186/s12881-020-0960-2

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