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The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome
2Iq23.1 microdeletion syndrome is a recently described rare disease that includes intellectual disability, motor delay, autistic-like behaviors, and craniofacial abnormalities. Dosage insufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene was suggested as the genetic cause, since all t...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Taylor & Francis
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755234/ https://www.ncbi.nlm.nih.gov/pubmed/26942102 http://dx.doi.org/10.4161/2167549X.2014.967151 |