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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5107176/
https://ncbi.nlm.nih.gov/pubmed/27171548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.42
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