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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Pubblicato in:Front Integr Neurosci
Autori principali: Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2020
Soggetti:
Neuroscience
Accesso online: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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