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Heritable Collagen Disorders: The Paradigm of the Ehlers-Danlos Syndrome.

作者信息

Byers Peter H, Murray Mitzi L

机构信息

Department of Pathology, University of Washington, Seattle, Washington, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.

Department of Pathology, University of Washington, Seattle, Washington, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.

出版信息

J Invest Dermatol. 2012 Nov;132 Suppl 3:E6-E11. doi: 10.1038/skinbio.2012.3.

DOI:10.1038/skinbio.2012.3
PMID:26875441
Abstract
摘要

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Heritable Collagen Disorders: The Paradigm of the Ehlers-Danlos Syndrome.遗传性胶原紊乱：埃勒斯-当洛综合征范例
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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.由腱生蛋白-X缺乏引起的埃勒斯-当洛综合征的隐性形式。
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[Ehlers-Danlos-Syndrome. Heterogeneity and molecular causes of the disease picture].
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[Ehlers-Danlos syndrome type I. Ultrastructural study].[Ⅰ型埃勒斯-当洛综合征。超微结构研究]
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Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.埃勒斯-当洛综合征重型（I型）中胶原纤维结构异常。
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Ehlers-Danlos syndrome--a historical review.埃勒斯-当洛综合征——历史回顾
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Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.与其他遗传性结缔组织疾病相比，关节过度活动综合征/埃勒斯-当洛综合征过度活动型的鉴别诊断及诊断流程图。
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