| Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. | |
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MedLine Citation:
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PMID: 20649799 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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M O'Connell; N P Burrows; M J J van Vlijmen-Willems; S M Clark; J Schalkwijk |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The British journal of dermatology Volume: 163 ISSN: 1365-2133 ISO Abbreviation: Br. J. Dermatol. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: England |
Other Details:
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Languages: eng Pagination: 1340-5 Citation Subset: IM |
Copyright Information:
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© 2010 The Authors. BJD © 2010 British Association of Dermatologists. |
Affiliation:
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Department of Dermatology, The General Infirmary at Leeds, Great George's Street, Leeds LS1 3EX, UK. Michael.O'Connell@leedsth.nhs.uk |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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