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J-GLOBAL ID：201802279465206555   Reference number：18A0713275

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation

de novo平衡相互転座により引き起こされたSox5ハプロ不全患者の臨床的および遺伝的特性化【JST・京大機械翻訳】

Author (10)： Fukushi Daisuke (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Yamada Kenichiro (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Suzuki Kaoru (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Inaba Mie (Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Nomura Noriko (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Suzuki Yasuyo (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Katoh Kimiko (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Mizuno Seiji (Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Wakamatsu Nobuaki (Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan) ,  Wakamatsu Nobuaki (Department of Neurology, Neurology and Stroke Center, Takamatsu Municipal Hospital, Takamatsu, Kagawa, Japan)
Material： Gene  (International Journal Focusting on Gene Cloning and Gene Structure and Function)
Volume： 655  Page： 65-70  Publication year： 2018 
JST Material Number： E0701B  ISSN： 0378-1119  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Lamb-Shaffer syndrome (OMIM: 6...

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Thesaurus term： intelligence disorder ,  *patient ,  autism ,  Point Mutation ,  nucleotide sequence ,  FISH ,  *translocation (genetics) ,  man ,  intron ,  Japanese ,  *Haploinsufficiency ,  *mutual translocation ,  *cellular genetic phenomenon
Semi thesaurus term： 臨床診断 ,  臨床的特徴 ,  軽症 , 【Automatic Indexing@JST】

Author keywords (4)： SOX5 ,  Lamb-Shaffer syndrome ,  De novo balanced reciprocal translocation ,  Autism spectrum disorder

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Terms in the title (7)： 平衡 ,  相互転座 ,  Sox5 ,  ハプロ不全 ,  患者 ,  臨床 ,  遺伝的特性化