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J-GLOBAL ID：202002249621471875   Reference number：20A0295015

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

WDR11は10q26欠失症候群における欠損,心臓異常および成長遅延に対するもう一つの原因遺伝子である【JST・京大機械翻訳】

Author (12)： Sutani Akito (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan) ,  Shima Hirohito (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan) ,  Hijikata Atsushi (Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama, Shiga, 526-0829, Japan) ,  Hosokawa Susumu (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan) ,  Katoh-Fukui Yuko (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan) ,  Takasawa Kei (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan) ,  Suzuki Erina (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan) ,  Doi Shozaburo (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan) ,  Shirai Tsuyoshi (Faculty of Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama, Shiga, 526-0829, Japan) ,  Morio Tomohiro (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan) ,  Fukami Maki (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan) ,  Kashimada Kenichi (Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 63  Issue： 1  Page： Null  Publication year： 2020 
JST Material Number： A1224A  ISSN： 1769-7212  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： 10q26 deletion syndrome is cau...

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Thesaurus term： Chromosome Aberrations ,  Genitalia ,  spectrum ,  cardiac insufficiency ,  Colostrum ,  pathophysiology ,  missense mutation ,  *Heart ,  ventricular heart septal defect ,  Phenotype ,  *gene ,  domain structure ,  *causative gene ,  *Growth retardation ,  cellular genetic phenomenon
Semi thesaurus term： 臨床表現型 , 【Automatic Indexing@JST】

Author keywords (5)： 10q26 deletion syndrome ,  WD repeat domain 11 ,  Coloboma ,  Growth retardation ,  Congenital heart defects

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

Terms in the title (6)： 欠失 ,  症候群 ,  欠損 ,  心臓 ,  成長遅延 ,  原因遺伝子