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...

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Vydáno v:BMC Med Genet
Hlavní autoři: Caffarelli, Carla, Gonnelli, Stefano, Pitinca, Maria Dea Tomai, Camarri, Silvia, Al Refaie, Antonella, Hayek, Joussef, Nuti, Ranuccio
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995101/
https://ncbi.nlm.nih.gov/pubmed/32005172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0960-2
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