显著的神经认知特征和临床表型与22q11.2位点的副本数变化相关

Kathleen P O'Hora1,2, Leila Kushan-Wells1, Charles H Schleifer1,2,3

  • 1Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.

概括

罕见的遗传变异会影响神经发育. 22q11.2删除 (22qDel) 和重复 (22qDup) 影响认知,但22qDel也增加了精神病风险,揭示了明显的基因-大脑-行为联系.

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