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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...
Uloženo v:
| Vydáno v: | Orphanet J Rare Dis |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2016
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| Témata: | |
| On-line přístup: | 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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