期刊文献+

一例青春期成骨不全报告

Case report : Adolescent osteogenesis imperfect
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摘要 成骨不全(osteogenesis imperfect,01),又称脆骨病,1788年由Ekman教授首次描述。是一种遗传性疾病,主要临床表现有骨脆弱、骨折和骨骼畸形,有的患者伴有牙齿疾病及听力障碍。
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2014年第2期158-159,共2页 Chinese Journal of Endocrinology and Metabolism
基金 北京市自然科学基金(7072073)
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参考文献12

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二级参考文献10

  • 1Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type Ⅰ collagen : regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans[ J]. Hum Mutat,2007,28:209-221. 被引量:1
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