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Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a progressive X-linked neurological disorder characterized by loss of developmental milestones, intellectual disability and breathing abnormality. Despite being a monogenic disorder, the pathogenic mechanisms by wh...
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| Yayımlandı: | Neurobiol Learn Mem |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6635128/ https://ncbi.nlm.nih.gov/pubmed/30447288 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nlm.2018.11.006 |
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