Tenascin-X 缺乏与埃勒斯-当洛斯综合征：病例报告及文献复习。
Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
机构信息
Department of Dermatology, The General Infirmary at Leeds, Great George's Street, Leeds LS1 3EX, UK. Michael.O'
出版信息
Br J Dermatol. 2010 Dec;163(6):1340-5. doi: 10.1111/j.1365-2133.2010.09949.x.
Abstract
Tenascin-X is a large extracellular matrix glycoprotein that is widely distributed within connective tissues and is associated with an autosomal recessive type of Ehlers-Danlos syndrome (EDS). Tenascin-X represents the first EDS susceptibility gene that does not code for a fibrillar collagen or collagen-processing enzyme. We describe a paediatric case of tenascin-X deficiency and review the literature.
摘要
Tenascin-X 是一种大型细胞外基质糖蛋白，广泛分布于结缔组织中，与常染色体隐性遗传型埃勒斯-当洛斯综合征（EDS）有关。Tenascin-X 是首个不编码纤维胶原或胶原加工酶的 EDS 易感基因。我们描述了一例 Tenascin-X 缺乏症患儿，并复习了文献。
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