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Tenascin-X deficiency in autosomal recessive Ehlers–Danlos syndrome

✍ Scribed by Noralane M. Lindor; James Bristow

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 254 KB
Volume: 135A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30671

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✦ Synopsis

Abstract

We present two unrelated individuals with complete deficiency of tenascin‐X, resulting in an autosomal recessive form of Ehlers–Danlos syndrome (EDS). Consistent with the original description of tenascin‐X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease. © 2005 Wiley‐Liss, Inc.

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