发育医学电子杂志 2019, Vol. 7 Issue (3): 231-234 DOI: 10.3969/j.issn.2095-5340.2019.03.015 |
围产医学
综述
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骨骼纤毛类疾病致病分子机制研究进展 |
张鑫悦 卢彦平 |
解放军总医院第一医学中心 |
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Progress in the molecular pathogenesis of skeletal ciliopathies |
ZHANG Xin-yue, LU Yan-ping |
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摘要 纤毛类疾病(ciliopathies)是由纤毛结构或功能异常引起的一类罕见遗传病,其中以骨骼系统异常为主要表现者称为骨骼纤毛类疾病(skeletalciliopathies)。随着新一代测序技术的快速发展,骨骼纤毛类疾病致病基因和分子致病机制也更多地被揭示。依据《国际遗传性骨病分型标准(2015版)》[1],骨骼纤毛类疾病被列为第9 组。本文对骨骼纤毛类疾病的临床特征及分子致病机制进展
进行综述。
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关键词:
纤毛类疾病')" href="#">
纤毛类疾病
骨骼畸形
致病机制
新一代测序
')" href="#">新一代测序
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收稿日期: 2018-09-26
出版日期: 2019-07-30
发布日期: 2019-07-29
期的出版日期: 2019-07-30
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基金资助: 军队出生缺陷干预救助体系研究(16JS010) |
通讯作者:
卢彦平https://baike.baidu.com/item/%E5%8D%A2%E5%BD%A6%E5%B9%B3/3839372?fr=aladdin
E-mail: luyp301@163.com
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