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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Neuroscience
Acesso em linha: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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