A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X

We recently described a new autosomal recessive type of Ehlers-Danlos syndrome (EDS) based on a deficiency of the extracellular matrix protein tenascin-X (TNX). TNX-deficient patients have hypermobile joints, hyperextensible skin and show easy bruising. Because of the reported cardiovascular abnorma...

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Veröffentlicht in:	Netherlands journal of medicine 2004-05, Vol.62 (5), p.160-162
Hauptverfasser:	PEETERS, A. C. T. M, KUCHAREKOVA, M, TIMMERMANS, J, VAN DEN BERKMORTEL, F. W. P. J, BOERS, G. H. J, NOVAKOVA, I. R. O, EGGING, D, DEN HEIJER, M, SCHALKWIJK, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Echocardiography Ehlers-Danlos Syndrome - complications Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - metabolism General aspects Humans Medical sciences Mitral Valve Prolapse - complications Mitral Valve Prolapse - diagnostic imaging Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Tenascin - deficiency
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