A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding
马兰综合征患者伴后脑过度拥挤的一种新的致病NFIX变种
作者: Kenshiro TabataAritoshi IidaEri TakeshitaEiji NakagawaNoriko SatoMasayuki SasakiKen InoueYu-ichi Goto
作者单位: 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan
2Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan
3Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan
4Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan
5Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan
刊名: Journal of the Neurological Sciences, 2020, Vol.412
来源数据库: Elsevier Journal
DOI: 10.1016/j.jns.2020.116758
关键词: Malan syndromeChiari malformationNFIX19p13.2 microdeletionCerebellum
全文获取路径: Elsevier  (合作)
分享到:
来源刊物:
影响因子:2.243 (2012)

×
关键词翻译
关键词翻译
  • overcrowding 拥挤过度
  • hindbrain 菱脑
  • associated 相关的
  • malformation 畸形
  • syndrome 症候群
  • variant 变体
  • pathogenic 病原的
  • patient 有耐性的
  • novel 长篇小说