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Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome is characterized by intellectual disability, motor delay, autistic-like behaviors, and a distinctive craniofacial phenotype. All patients carry a partial or total deletion of methyl-CpG-binding domain protein 5 (MBD5), suggesting that haploinsufficiency of this gene is...
Autores principales: | Camarena, Vladimir, Cao, Lei, Abad, Clemer, Abrams, Alexander, Toledo, Yaima, Araki, Kimi, Araki, Masatake, Walz, Katherina, Young, Juan I |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154129/ https://www.ncbi.nlm.nih.gov/pubmed/25001218 http://dx.doi.org/10.15252/emmm.201404044 |
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