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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Bibliografiske detaljer
Udgivet i:Front Integr Neurosci
Main Authors: Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020
Fag:
Neuroscience
Online adgang: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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