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J-GLOBAL ID：201702237803537826   Reference number：17A0109937

Analysis of genotypes and clinical manifestations of three cases of Sotos syndrome

3例のSOTOS症候群の遺伝子型と臨床症状の分析【JST・京大機械翻訳】

Author (6)： Kang Lulu (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Liu Xiaoqing (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Zhang Huiwen (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Qiu Wenjuan (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Sun Yu (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine) ,  Gu Xuefan (Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine)
Material： Shanghai Jiaotong Daxue Xuebao. Yixueban  (Journal of Shanghai Jiaotong University. Medical Science)
Volume： 36  Issue： 8  Page： 1165-1170  Publication year： 2016 
JST Material Number： C2139A  ISSN： 1674-8115  CODEN： SJDXB8  Document type： Article
Article type： 原著論文  Country of issue： China (CHN)  Language： CHINESE (ZH)

Abstract/Point： Objective ? To investigate the...

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Thesaurus term： phenotype ,  man ,  *genotype ,  gene diagnosis ,  mutation ,  *heredity
Semi thesaurus term： DNA配列解析 ,  ヘテロ接合性 ,  NSD1遺伝子 ,  初期症状 ,  遺伝子配列 ,  中国人 , 【Automatic Indexing@JST】

Author keywords (3)： Sotos syndrome ,  NSD1 gene ,  genotype

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

Terms in the title (4)： Sotos症候群 ,  遺伝子型 ,  臨床症状 ,  分析