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作 者:IP Lao Hong LI Jun 葉柳虹;李峻
机构地区:[1]Department of Imaging Center,Kiang Wu Hospital,Macao SAR,China
出 处:《镜湖医学》2024年第2期56-57,16,共3页MEDICAL JOURNAL OF KIANG WU
摘 要:Introduction.Osteogenesis imperfecta(OI),also known as brittle bone disease,is a phenotypically diverse disorder due to deficiencies in the synthesis of type I collagen.OI is a disease characterized by brittle bones and frequent fractures with minimal trauma leading to skeletal deformities[1].Its incidence is estimated at 1 per 20,000 births.Though rare,it is the most common inherited disorder of connective tissue.Principally,it affects bone,but it also impacts other tissues rich in type I collagen,such as joints,eyes,ears,skin,and teeth.
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