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 MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent and early complication...
Paper Details
Title
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome
Published Date
Jan 31, 2020
Journal
Volume
21
Issue
1
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