The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Published:2015-03-11 Issue:12 Volume:23 Page:1657-1664
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Frank Michael,Albuisson Juliette,Ranque Brigitte,Golmard Lisa,Mazzella Jean-Michael,Bal-Theoleyre Laurence,Fauret Anne-Laure,Mirault Tristan,Denarié Nicolas,Mousseaux Elie,Boutouyrie Pierre,Fiessinger Jean-Noël,Emmerich Joseph,Messas Emmanuel,Jeunemaitre Xavier

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201532.pdf

Reference20 articles.

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2. Pepin M, Schwarze U, Superti-Furga A, Byers PH : Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673–680.

3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ : Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998; 77: 31–37.

4. Dalgleish R : The Human Collagen Mutation Database 1998. Nucleic Acids Res 1998; 26: 253–255.

5. Leistritz DF, Pepin MG, Schwarze U, Byers PH : COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med 2011; 13: 717–722.

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