A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, which do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting t...

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Detalles Bibliográficos
Autores principales: D’haene, Eva, Bar-Yaacov, Reut, Bariah, Inbar, Vantomme, Lies, Van Loo, Sien, Cobos, Francisco Avila, Verboom, Karen, Eshel, Reut, Alatawna, Rawan, Menten, Björn, Birnbaum, Ramon Y, Vergult, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381311/
https://www.ncbi.nlm.nih.gov/pubmed/30445463
http://dx.doi.org/10.1093/hmg/ddy393

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381311/
https://www.ncbi.nlm.nih.gov/pubmed/30445463
http://dx.doi.org/10.1093/hmg/ddy393

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