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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome
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 mu...
Autores principales: | Caffarelli, Carla, Gonnelli, Stefano, Pitinca, Maria Dea Tomai, Camarri, Silvia, Al Refaie, Antonella, Hayek, Joussef, Nuti, Ranuccio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995101/ https://www.ncbi.nlm.nih.gov/pubmed/32005172 http://dx.doi.org/10.1186/s12881-020-0960-2 |
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