Art

J-GLOBAL ID：202002249445565125   Reference number：20A0295004

Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder

AhDC1を含む1p36.11p35.3の微小欠失と微小重複は神経発達障害に寄与する【JST・京大機械翻訳】

Author (10)： Wang Qingming (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Wang Qingming (Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China) ,  Huang Xiaoling (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Liu Yanhui (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Liu Yanhui (Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China) ,  Peng Qian (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Zhang Yuqiong (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Liu Jianxin (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Yuan Haiming (Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China) ,  Yuan Haiming (Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China)
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： Xia-Gibbs syndrome is a rare g...

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Thesaurus term： anoxia ,  mutation ,  *heredity ,  language ,  intelligence disorder ,  gene duplication ,  height(body) ,  gene ,  phenotype ,  facies
Semi thesaurus term： 臨床的特徴 ,  ハプロ不全 ,  成長遅延 ,  *神経発達障害 ,  *微小欠失 , 【Automatic Indexing@JST】

Author keywords (5)： Xia-Gibbs syndrome ,  Truncating mutations ,  AHDC1 deletion ,  AHDC1 duplication ,  Haploinsufficiency

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

Terms in the title (3)： 微小欠失 ,  微小 ,  神経発達障害