Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012-Reference-Cited by-同舟云学术

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Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

Published:2012-08-15 Issue:1 Volume:21 Page:118-118
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mayer Karin,Kennerknecht Ingo,Steinmann Beat

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012162.pdf

Reference14 articles.

1. Steinmann B, Royce PM, Superti-Furga A : The Ehlers-Danlos syndrome; in Royce PM, Steinmann B, (eds).: Connective Tissue and Its Heritable Disorders. New York: Wiley-Liss, 2002, 2nd edn, pp 431–523.

2. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ : Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998; 77: 31–37.

3. Malfait F, Wenstrup RJ, De Paepe A : Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 2010; 12: 597–605.

4. Symoens S, Syx D, Malfait F et al: Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat 2012; e-pub ahead of print 13 June 2012; doi: 10.1002/humu.22137.

5. O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J : Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. Br J Dermatol 2010; 163: 1340–1345.

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