索引超出了数组界限。 文章摘要
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[1]李国强,王剑.严重脊柱发育不良疾病遗传学研究进展[J].国际骨科学杂志,2017,05:323-326.
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严重脊柱发育不良疾病遗传学研究进展(PDF)

《国际骨科学杂志》[ISSN:1673-7083/CN:31-1952/R]

期数:
2017年05期
页码:
323-326
栏目:
综述
出版日期:
2017-09-20

文章信息/Info

Title:
-
作者:
李国强; 王剑
200127, 上海交通大学医学院附属上海儿童医学中心分子诊断实验室与医学遗传科
Author(s):
-
关键词:
严重脊柱发育不良;  遗传学;  致病基因;  罕见病
Keywords:
-
分类号:
-
DOI:
10.3969/j.issn.1673-7083.2017.05.012
文献标识码:
A
摘要:
遗传性骨病种类繁多,其中严重脊柱发育不良是以严重脊椎异常和独特骨骼形态为特征的异质性骨骼疾病,通常可导致患儿早亡。该疾病组包括软骨成长不全ⅠA型(ACG1A)、蜗牛形骨盆骨骼发育不良、脊椎干骺端发育不良Sedaghatian型(SMDS)、骨成熟延迟的骨骼发育不良、线粒体相关的粒细胞-巨噬细胞集落刺激因子信号分子(MAGMAS)相关的骨骼发育不良。遗传学检测手段对于确诊及预防此类疾病的发生具有重要作用,随着高通量测序技术的应用,相关致病基因不断被揭示,为阐明发病机制及帮助诊断和预防打下基础。该文对严重脊柱发育不良疾病遗传学研究进展作一综述。
Abstract:
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参考文献/References

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备注/Memo

备注/Memo:
通信作者: 王剑 E-mail: Labwangjian@shsmu.edu.cn
更新日期/Last Update: 2017-09-20