| SLC16A2基因新发变异致Allan-Herndon-Dudley综合征1例报告并文献复习 |
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| 引用本文： | 贾倩芳,周福军,崔清洋.SLC16A2基因新发变异致Allan-Herndon-Dudley综合征1例报告并文献复习[J].临床儿科杂志,2020,38(12):953-956. |
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| 作者姓名： | 贾倩芳 周福军 崔清洋 |
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| 作者单位： | 新乡医学院第一附属医院儿科（河南卫辉 453100） |
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| 摘 要： |
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| 关 键 词： | Allan-Herndon-Dudley综合征 SLC 16 A2基因 半合子变异 |
Allan-Herndon-Dudley syndrome caused by a novel mutation of SLC16A2 gene: a case report and literature review |
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| JIA Qianfang,ZHOU Fujun,CUI Qingyang.Allan-Herndon-Dudley syndrome caused by a novel mutation of SLC16A2 gene: a case report and literature review[J].The Journal of Clinical Pediatrics,2020,38(12):953-956. |
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| Authors: | JIA Qianfang ZHOU Fujun CUI Qingyang |
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| Institution: | Department of Pediatrics, The First Affiliated Hospital of Xinxiang Medical College, Weihui 453100, Henan, China |
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| Abstract: | |
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| Keywords: | : Allan-Herndon-Dudley-syndrome SLC 16 A2 gene hemizygotic variation |
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