【摘 要】
：
目的 成骨不全症(OI)是一种以骨骼脆性增加和骨量减少为特征的遗传性疾病.临床表现为反复骨折、蓝色巩膜、听力障碍、牙本质发育不良等.其遗传机制尚不清楚,本文就OI的分子遗
【出 处】
：
中华医学会第五次中青年骨质疏松和骨矿盐疾病学术会议
论文部分内容阅读
目的 成骨不全症(OI)是一种以骨骼脆性增加和骨量减少为特征的遗传性疾病.临床表现为反复骨折、蓝色巩膜、听力障碍、牙本质发育不良等.其遗传机制尚不清楚,本文就OI的分子遗传学进展进行综述.方法 在PUBMED网站以Osteogenesis Imperfecta和gene mutation为关键词,检索近5年相关文献并阅读全文.
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