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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
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 |
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