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威廉姆斯综合征3例报告 被引量:2

Williams syndrome:A report of 3 cases
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摘要 威廉姆斯综合征(Williams syndrome,WS)是一种遗传性精神发育迟滞性疾病,该病的发病机制为7号染色体长臂近端(7q11.23)上弹性蛋白基因微缺失。本文就3例确诊的WS患者的病例资料进行报告如下,并总结了该病的临床特点及诊断方法。
出处 《中国实用儿科杂志》 CSCD 北大核心 2016年第10期798-800,共3页 Chinese Journal of Practical Pediatrics
关键词 威廉姆斯综合征 特殊面容 智力发育迟滞 性格特征 Williams syndrome unusual facies mental retardation character trait
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参考文献10

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二级参考文献25

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