A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding.

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作者： Kenshiro,Tabata ^[1] ; Aritoshi,Iida ^[2] ; Eri,Takeshita ^[1] ; Eiji,Nakagawa ^[1] ; Noriko,Sato ^[3] ; Masayuki,Sasaki ^[1] ; Ken,Inoue ^[4] ; Yu-Ichi,Goto ^[5]

作者单位： Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. ^[1] Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. ^[2] Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. ^[3] Department 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. ^[4] Department 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; Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan. Electronic address: goto@ncnp.go.jp. ^[5]

关键词 19p13.2 microdeletion Cerebellum Chiari malformation Malan syndrome NFIX

主题词畸形, 多发性(Abnormalities, Multiple);Arnold-Chiari畸形(Arnold-Chiari Malformation);小脑(Cerebellum);人类(Humans);NFI转录因子类(NFI Transcription Factors);菱脑(Rhombencephalon)

DOI 10.1016/j.jns.2020.116758

PMID 32193017

发布时间 2021-05-14

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