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新生儿Beckwith-Wiedemann综合征1例并文献复习

Newborn Beckwith Wiedemann syndrome:a case report and literature review
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摘要 Beckwith-Wiedemann综合征(BWS)是一种罕见的印记基因疾病,大多于生后确诊,且由于该病易患胚胎性肿瘤,需长期随访观察。现将湖北医药学院附属十堰市人民医院于2020年3月收治的1例经基因确诊的BWS患儿病史资料报道如下。
作者 王潇 赵旸 WANG Xiao;ZHAO Yang
出处 《中国医学工程》 2023年第7期128-131,共4页 China Medical Engineering
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  • 7Ping AJ,Reeve AE,Law DJ. Genetic linkage of Beckwith-Wiedemann syndrome to 1 lp15[J].American Journal of Human Genetics,1989,(05):720-723.
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  • 10Lukova M,Todorova A,Todorov T. Different methylation patterns in BWS/SRS cases clarified by MSMLPA[J].Molecular Biology Reports,2013,(01):263-268.

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