Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by de novo mutations in the X-linked gene Methyl-CpG-binding pro...

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Detaylı Bibliyografya
Yayımlandı:Front Integr Neurosci
Asıl Yazarlar: Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2020
Konular:
Neuroscience
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052375/
https://ncbi.nlm.nih.gov/pubmed/32161522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnint.2020.00007
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