Broad spectrum of clinical presentation in EARS2 beyond typical 'leukoencephalopathy with thalamus and brain stem involvement'

著录项

• 来源
  《Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology 》 |2019年第2019期| 共3页
• 作者

  Prasun Pankaj; Mintz Cassie; Cork Emalyn; Naidich Thomas P.; Webb Bryn D.;

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• 作者单位

  Icahn Sch Med Mt Sinai Dept Genet &

  Genom Sci One Gustave L Levy Pl Box 1497 New York NY 10029;

  Icahn Sch Med Mt Sinai Dept Genet &

  Genom Sci One Gustave L Levy Pl Box 1497 New York NY 10029;

  Icahn Sch Med Mt Sinai Dept Genet &

  Genom Sci One Gustave L Levy Pl Box 1497 New York NY 10029;

  Icahn Sch Med Mt Sinai Dept Radiol New York NY 10029 USA;

  Icahn Sch Med Mt Sinai Dept Genet &

  Genom Sci One Gustave L Levy Pl Box 1497 New York NY 10029;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 神经病学 ;
• 关键词

  Mitochondria; Leukoencephalopathy; Leukodystrophy; Brain stem; Thalamus; EARS2;

  机译：线粒体;白细胞病;Leukodystrophy;脑干;丘脑;耳朵2;