Art

J-GLOBAL ID：202002229829147354   Reference number：20A0638065

Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability

てんかんと知的障害のある女児の症例提示からの16p13.3微小欠失症候群の精密化

Author (5)： Kuroda Yukiko (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Kimura Yuichi (Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Uehara Tomoko (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Kosaki Kenjiro (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Kurosawa Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
Material： Congenital Anomalies (Web)  (Congenit Anom (Web))
Volume： 60  Issue： 2  Page： 75-77  Publication year： 2020 
JST Material Number： U0506A  ISSN： 1741-4520  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *chromosomal aberration ,...
Semi thesaurus term： *Microdeletion ,...

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

Terms in the title (6)： てんかん ,  知的障害 ,  症例 ,  微小欠失 ,  症候群 ,  精密化