[胶原病的遗传学]
[The genetics of collagen diseases].
作者信息
Kaplan J, Maroteaux P, Frezal J
出版信息
Ann Biol Clin (Paris). 1986;44(3):289-95.
PMID:3789479
Abstract
Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.
摘要
胶原蛋白的遗传性疾病包括埃勒斯-当洛综合征（实际上已知有11种类型）、拉森综合征和成骨不全症。本文综述了它们的临床、遗传和生化特征。马方综合征与胶原蛋白的遗传性疾病密切相关。
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