案例报告:一个患有NCKAP1-相关神经发育障碍和自闭症谱系障碍的成年人

Aruna Jain1, Elizabeth VanSickle2, Lia Zitano2

  • 1College of Human Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, United States.

PubMed
概括

本病例报告详细介绍了一名中年男性,患有神经发育障碍 (NDD) 和自闭症谱系障碍 (ASD),与罕见的NCKAP1基因变异有关. 这突显了与NCKAP1相关的NDD的成年人呈现,此前在这个年龄组中没有报告.

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