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| Goldenhar综合征的研究现状 | |
| 引用本文： | 黄雪霜（综述） 张建湘（审校）. Goldenhar综合征的研究现状[J]. 怀化医专学报, 2006, 5(2): 84-86 |
| 作者姓名： | 黄雪霜（综述） 张建湘（审校） |
| 作者单位： | [1]怀化医专基础医学部,湖南怀化418000 [2]中南大学湘雅医学院组织与胚胎学教研室 |
| 摘 要： | Goldenhat综合征是一种罕见的第一、二腮弓发育异常的遗传性先天缺陷，临床表现县高度多样性。除眼球皮样囊肿、耳畸形和脊柱异常外，还可见心脏和神经系统等的发育缺陷。本文系统阐述了Goldnhar综合征的临床特征与诊断、发病机制与病因、分子遗传学研究和临床治疗，对全面了解Goldenhar综合征有一定意义。 |
| 关 键 词： | Goldenhar综合征 临床表现 发病机理 分子遗传学研究 临床治疗 |
| 收稿时间： | 2006-04-12 |
Present status of research in Goldenhar syndrome |
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| HUANG Xue - shuang, ZHANG Jian - xiang. Present status of research in Goldenhar syndrome[J]. Journal of Huaihua Medical College, 2006, 5(2): 84-86 | |
| Authors: | HUANG Xue - shuang ZHANG Jian - xiang |
| Abstract: | Goldenhar's syndrome is a unusual birth defect involving first and second branchial arch derivatives.The phenotype is extremely variable.In addition to optic dermoid,malformed ears and vertebral defect,there may be cardiac and central nervous system defects.This artiel reviewed clinical manif estation,pathogenesy,molecular genetical research and clinical therapy about Goldenhar's syndrome,which will help readers to understand this malformation. |
| Keywords: | Goldenhar's syndrome clinical manifestation pathogenesy molecular genetical research clinical therapy |
| 本文献已被 CNKI 维普 等数据库收录！ | |