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J-GLOBAL ID：201902258885787994   Reference number：19A2528891

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

先天性複合下垂体ホルモン欠乏症患者におけるFoxa2遺伝子変異【JST・京大機械翻訳】

Author (10)： Boda Hiroko (Department of Pediatrics, Fujita Health University School of Medicine, Japan) ,  Miyata Masafumi (Department of Pediatrics, Fujita Health University School of Medicine, Japan) ,  Inagaki Hidehito (Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan) ,  Inagaki Hidehito (Genome and Transcriptome Analysis Center, Fujita Health University, Japan) ,  Shinkai Yasuko (Genome and Transcriptome Analysis Center, Fujita Health University, Japan) ,  Kato Takema (Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan) ,  Kato Takema (Genome and Transcriptome Analysis Center, Fujita Health University, Japan) ,  Yoshikawa Tetsushi (Department of Pediatrics, Fujita Health University School of Medicine, Japan) ,  Kurahashi Hiroki (Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan) ,  Kurahashi Hiroki (Genome and Transcriptome Analysis Center, Fujita Health University, Japan)
Material： European Journal of Medical Genetics  (Eur J Med Genet)
Volume： 62  Issue： 11  Page： Null  Publication year： 2019 
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： We report a patient with conge...

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Thesaurus term： case report ,  *genetic variation ,  *gene ,  *pituitary hormone ,  gene deficiency ,  mutation ,  similarity ,  phenotype ,  *heredity ,  heterojunction ,  pathogenesis ,  missense mutation ,  protein
Semi thesaurus term： ハプロ不全 ,  DNA結合 ,  複雑性 , 【Automatic Indexing@JST】

Author keywords (5)： Congenital complex pituitary hormone deficiency (CPHD) ,  Intestinal malrotation ,  Anal atresia ,  FOXA2 ,  Haploinsufficiency

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

Terms in the title (4)： 下垂体ホルモン欠乏症 ,  患者 ,  Foxa2 ,  遺伝子変異