Art

J-GLOBAL ID：202002280882750563   Reference number：20A0480645

An extremely severe case of Aicardi-Goutieres syndrome 7 with a novel variant in IFIH1

IFIH1における新規変異体を伴うAicardi-Goutieres症候群7の極度に重篤な症例【JST・京大機械翻訳】

Author (6)： Amari Shoichiro (Division of Neonatology, Center for Maternal-Fetal, Neonatal, and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan) ,  Tsukamoto Keiko (Division of Neonatology, Center for Maternal-Fetal, Neonatal, and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan) ,  Ishiguro Akira (Division of Hematology, National Center for Child Health and Development, Tokyo, Japan) ,  Yanagi Kumiko (Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Kaname Tadashi (Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ito Yushi (Division of Neonatology, Center for Maternal-Fetal, Neonatal, and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 63  Issue： 2  Page： Null  Publication year： 2020 
JST Material Number： A1224A  ISSN： 1769-7212  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： We describe herein an extremel...

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Thesaurus term： cardiac hypertrophy ,  pulmonary hypertension ,  interchangeability ,  Death ,  Thrombocytopenia ,  Ascitic Fluid ,  calcification ,  blood vessel ,  gene ,  echocardiogram ,  Fever ,  Dyspnea ,  *Fetus ,  Pregnancy ,  Mutation ,  exudate

Author keywords (4)： Interferon type I ,  Lenticulostriate vasculopathy ,  Pulmonary hypertension ,  Whole exome sequencing

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (3)： 変異体 ,  Aicardi-Goutieres症候群 ,  症例