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胎儿眼皮肤白化病一例报告并文献复习

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Author:
No author available
Journal Title:
Chinese Journal of Obstetrics and Gynecology
Issue:
8
DOI:
10.3760/cma.j.issn.0529-567x.2013.08.015
Key Word:
No keyword available

Abstract: 世界范围内白化病的患病率约为1/17 000,我国资料显示为1/20 000左右[1],人群携带白化病基因频率约为1/70.白化病分为眼白化病、眼皮肤白化病和白化病相关综合征,依据致病基因不同眼皮肤白化病分为4型:Ⅰ、Ⅱ、Ⅲ、Ⅳ型,我国至少存在Ⅰ、Ⅱ、Ⅳ型.致病基因的确定是眼皮肤白化病分型及诊断的根本依据.我院近期收治1例胎儿眼皮肤白化病患者,现结合文献复习报道如下.

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