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Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes

Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6–18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Ehrhart, Friederike, Coort, Susan L. M., Cirillo, Elisa, Smeets, Eric, Evelo, Chris T., Curfs, Leopold M. G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123333/
https://ncbi.nlm.nih.gov/pubmed/27884167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0545-5
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