Vladimir Camarena, Lei Cao, Clemer Abad, Alexander Abrams, Yaima Toledo, Kimi Araki, Masatake Araki, Katherina Walz and Juan I Young Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome EMBO Molecular Medicine 6
2q23.1 microdeletion syndrome is a rare genetic disease that causes serious neurological deficits. In humans, haplo-insufficiency of MBD5 was thought to be responsible. This study provides the 1st mouse model of the syndrome and confirms the causal role of MBD5.
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