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  5. Treatment and genotype-phenotype analysis in Chinese patients with osteogensis imperfecta of type Ⅴ

Treatment and genotype-phenotype analysis in Chinese patients with osteogensis imperfecta of type Ⅴ

来源 :第七届国际骨质疏松及骨矿盐疾病学术会议 | 被引量 : 0次 | 上传用户：zzzzkj
【摘 要】
：
Background: Osteogenesis imperfecta (OI) type Ⅴ is rare,autosomal dominant inherited disease characterized by multiple fractures, radial head dislocation, intraosseous membrane calcification of the fo
【作 者】
：
Yi Liu Mei Li Peiran Zhou Fang Lv Weibo Xia WeiYU Yan Jiang Oui Wang Xiaoping Xing 
【机 构】
：
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medic
【出 处】
：
第七届国际骨质疏松及骨矿盐疾病学术会议
【发表日期】
：
2014年3期
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Background: Osteogenesis imperfecta (OI) type Ⅴ is rare,autosomal dominant inherited disease characterized by multiple fractures, radial head dislocation, intraosseous membrane calcification of the forearm, and hypercallus formation at the site of fractures.OI type Ⅴ is caused by interferoninduced transmembrane protein 5 (IFITM5) mutation.We aim to investigate the effects of zoledronate and analyze the correlation of genotype and phenotype in Chinese patients with OI of type Ⅴ.
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