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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Detalles Bibliográficos
Autores principales: Neul, Jeffrey L., Skinner, Steven A., Annese, Fran, Lane, Jane, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Glaze, Daniel G., Percy, Alan K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052375/
https://www.ncbi.nlm.nih.gov/pubmed/32161522
http://dx.doi.org/10.3389/fnint.2020.00007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052375/
https://www.ncbi.nlm.nih.gov/pubmed/32161522
http://dx.doi.org/10.3389/fnint.2020.00007

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