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Crouzon综合征合并黑棘皮病一例的基因诊断 被引量：1

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摘要 Crouzon综合征是颅缝早闭症的一种，其主要特征是颅缝早闭引起的颅腔狭小、眶浅和眼球突出、鹰钩鼻等颅面畸形，为常染色体显性遗传病。黑棘皮病是一种以颈部和皮肤皱褶处色素增生、过度角化、疣状增殖为特征的疾病。
作者 张晓青 王剑 余永国 傅启华
机构地区 上海交通大学医学院附属上海儿童医学中心检验科 上海交通大学医学院附属儿科转化医学研究所
出处 《中华检验医学杂志》 CAS CSCD 北大核心 2012年第12期1200-1202,共3页 Chinese Journal of Laboratory Medicine
基金 上海市新一轮卫生系统优秀学科带头人培养计划资助课题（XBR2011046） 上海市科委重大科技攻关项目资助课题（11dzl950300）
关键词 CROUZON综合征 黑棘皮病 基因诊断 常染色体显性遗传病 颅缝早闭症 眼球突出 颅面畸形 皮肤皱褶
分类号 R440 [医药卫生—诊断学]
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参考文献11

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二级参考文献26

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共引文献17

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中华检验医学杂志
2012年 第12期

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