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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Genet Med
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
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Article
Linkit: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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