Heterogeneity of osteogenesis imperfecta type I.
Heterogeneity of osteogenesis imperfecta type I.
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I 型成骨不全症的异质性。
DOI：
10.1136/jmg.20.3.203
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发表时间：
1983
影响因子：
4
通讯作者：
Ruth Miller
中科院分区：
文献类型：
--
作者：
C. Paterson;And SUSAN McALLION;Ruth Miller
我们研究了来自71个家族的166例Sillence I型成骨不全（显性遗传和蓝巩膜）患者。我们证实了早期的研究结果，有两个亚组，那些与和那些没有牙本质发生的骨;每个家庭可以分配到一个或其他组。我们的信心，这两组代表不同的疾病是增加了发现，牙本质发育不全的患者不仅在他们的牙齿特征，而且在其他临床特征不同。他们患有更严重的疾病，骨折率更高，生长障碍的可能性更大。
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.
I 型成骨不全症：I 型原胶原的 pro alpha 1 (I) 链的非功能性等位基因。
DOI：
10.1073/pnas.79.12.3838
发表时间：
1982
影响因子：
11.1
作者：
Barsh,GS;David,KE;Byers,PH
通讯作者：
Byers,PH