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A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding.
Tabata, Kenshiro; Iida, Aritoshi; Takeshita, Eri; Nakagawa, Eiji; Sato, Noriko; Sasaki, Masayuki; Inoue, Ken; Goto, Yu-Ichi.
Afiliação
  • Tabata K; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Iida A; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Nakagawa E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Sato N; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
  • Inoue K; 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.
  • Goto YI; 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-
J Neurol Sci ; 412: 116758, 2020 05 15.
Article em En | MEDLINE | ID: mdl-32193017
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformação de Arnold-Chiari / Anormalidades Múltiplas / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Neurol Sci Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Malformação de Arnold-Chiari / Anormalidades Múltiplas / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Neurol Sci Ano de publicação: 2020 Tipo de documento: Article