与IRF2BPL相关的疾病,导致神经发育障碍与回归,异常运动,言语丧失和 (NEDAMSS) 具有与DRPLA一致的病理特征

Sunita Venkateswaran1,2, Jean Michaud3, Yoko Ito1

  • 1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

概括

这项研究确定了儿童神经退行症的新型原因,干扰素调节因子2结合蛋白等 (IRF2BPL) 相关疾病,其特点是性和缺氧,并提供了它的第一个病理描述.

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