I型成骨不全症的异质性
Heterogeneity of osteogenesis imperfecta type I.
作者信息
Paterson C R, McAllion S, Miller R
出版信息
J Med Genet. 1983 Jun;20(3):203-5. doi: 10.1136/jmg.20.3.203.
Abstract
We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the patients with dentinogenesis imperfecta differ not only in their dental characteristics but also in other clinical features. They have a more severe disease with a greater fracture rate and a greater likelihood of growth impairment.
摘要
我们研究了来自71个家庭的166例Ⅰ型成骨不全（常染色体显性遗传，蓝色巩膜）患者。我们证实了之前的发现，即存在两个亚组，一组有牙本质发育不全，另一组没有；每个家庭可归为其中一组。发现有牙本质发育不全的患者不仅在牙齿特征上不同，在其他临床特征上也不同，这增强了我们认为这两组代表不同疾病的信心。他们的病情更严重，骨折率更高，生长发育受损的可能性更大。
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Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: support for genetic heterogeneity.显性成骨不全症牙齿的扫描电子显微镜检查：对基因异质性的支持
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A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.一名患有成骨不全症患者的I型前胶原结构缺陷：羧基末端前肽中存在过量甘露糖。
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6179-83. doi: 10.1073/pnas.77.10.6179.
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