Art

J-GLOBAL ID：201902224936213292   Reference number：19A0601401

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability

骨形成不全症,毛髪・歯・骨症候群および知的障害を有する女児における17q21.32-q22欠失

Author (4)： Yokoi Takayuki (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Saito Toshiyuki (Department of Clinical Laboratory, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Nagai Jun-ichi (Department of Clinical Laboratory, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Kurosawa Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan)
Material： Congenital Anomalies (Web)  (Congenit Anom (Web))
Volume： 59  Issue： 2  Page： 51-52  Publication year： 2019 
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： *Osteogenesis Imperfecta ,...
Semi thesaurus term： array based comparative genomic hybridization ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： 骨形成不全症 ,  毛髪 ,  歯 ,  骨 ,  症候群 ,  知的障害 ,  欠失