纤毛类疾病,骨骼畸形,致病机制,新一代测序

    ," /> 纤毛类疾病,骨骼畸形,致病机制,新一代测序

    ,"/> <span style="line-height:2;font-size:14px;">骨骼纤毛类疾病致病分子机制研究进展</span>
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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 |产科 |
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
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
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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

   
    

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
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
引用本文:    
张鑫悦 卢彦平. 骨骼纤毛类疾病致病分子机制研究进展[J]. 发育医学电子杂志, 2019, 7(3): 231-234.
ZHANG Xin-yue, LU Yan-ping. Progress in the molecular pathogenesis of skeletal ciliopathies. Journal of Developmental Medicine(Electronic Version), 2019, 7(3): 231-234.
链接本文:  
http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2019.03.015  或          http://www.fyyxzz.com/CN/Y2019/V7/I3/231
[1] 卢彦平 张鑫悦. 胎儿骨骼发育异常的诊断[J]. 发育医学电子杂志, 2019, 7(4): 252-254.
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