Art

J-GLOBAL ID：201802285779028085   Reference number：18A0457598

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation

SOX9変異を伴う症例における白質減少と脳梁菲薄化の存在

Author (9)： Matsumoto Ayumi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Imagawa Eri (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan) ,  Miyake Noriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan) ,  Ikeda Takahiro (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Kobayashi Mizuki (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Goto Masahide (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan) ,  Yamagata Takanori (Department of Pediatrics, Jichi Medical University, Tochigi, Japan) ,  Osaka Hitoshi (Department of Pediatrics, Jichi Medical University, Tochigi, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 40  Issue： 4  Page： 325-329  Publication year： Apr. 2018 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *abnormality ,...
Semi thesaurus term： *Campomelic Dysplasia ,...

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Author keywords (5)： SOX9 ,  Campomelic dysplasia (CMPD) ,  Acampomelic CMPD (ACMPD) ,  Macrocephaly ,  Ventriculamegaly

JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Neurologic diagnosis  (GN02000H)

Terms in the title (5)： Sox9 ,  変異 ,  症例 ,  白質 ,  脳梁