Art

J-GLOBAL ID：202002271146398900   Reference number：20A0638064

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13

13q12.11-q12.13のde novo5.4Mb欠失を有する女児における発達遅延と異形特徴

Author (6)： Tominaga Makiko (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Tominaga Makiko (Children’s Medical Center, Showa University Northern Yokohama Hospital, Yokohama, Japan) ,  Saito Toshiyuki (Department of Clinical Laboratory, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Masuno Mitsuo (Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan) ,  Umeda You (Children’s Medical Center, Showa University Northern Yokohama Hospital, Yokohama, 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： 73-74  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： amentia ,...
Semi thesaurus term： I.Q.

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

Terms in the title (3)： 欠失 ,  発達 ,  遅延