Article
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Molecular psychiatry - 1 Mar 2014
Hodge J C, Mitchell E, Pillalamarri V, Toler T L, Bartel F, Kearney H M, Zou Y S, Tan W H, Hanscom C, Kirmani S, Hanson R R, Skinner S A, Rogers R C, Everman D B, Boyd E, Tapp C, Mullegama S V, Keelean-Fuller D, Powell C M, Elsea S H, Morton C C, Gusella J F, DuPont B, Chaubey A, Lin A E, Talkowski M E
Abstract excerpt
Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes; however, the impact of this locus on human psychopathology has not been fully explored. To characterize the structural variation landscape of MBD5 disruptions and the associated human psychopathology, 22 individuals with genomic disruption of MBD5...
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