Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

PURPOSE: Rett Syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations (DNMs) in MECP2 and sometimes in CDKL5 and FOXG1. However, some RTT cases lack mutations in these genes. METHODS: Twenty-two RTT cases without apparent MECP2, CDKL5, and FOXG1 mutations were subjected...

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Detalles Bibliográficos
Autores principales: Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107176/
https://www.ncbi.nlm.nih.gov/pubmed/27171548
http://dx.doi.org/10.1038/gim.2016.42

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