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马凡综合征的分子遗传学研究进展 被引量:1

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摘要 马凡综合征(Marfan syndrome,MFS)(OMIM 154700)是最常见的常染色体显性遗传性疾病之一,1896年一位法国儿科医师首次描述了其以骨骼、眼及心血管三大系统的缺陷为主要特征。因累及骨骼可使手指细长,呈蜘蛛指(趾)样,故又称为蜘蛛指(趾)综合征(arachnodactyly),患病率为1/3000~1/5000,其中25%以上是散发病例[1]。
作者 贺晶 高凌根
出处 《中华保健医学杂志》 2015年第5期421-424,共4页 Chinese Journal of Health Care and Medicine
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