Article
[Vascular Ehlers-Danlos syndrome].
Presse medicale (Paris, France : 1983) - 1 Dec 2006
Perdu Jérôme, Boutouyrie Pierre, Lahlou-Laforêt Khadija, Khau Van Kien Philippe, Denarié Nicolas, Mousseaux Elie, Sapoval Marc, Julia Pierre, Zinzindohoué Frank, Touraine Philippe, Dumez Yves, Trystram Denis, Vignal-Clermont Catherine, Gimenez-Roqueplo Anne-Paule, Jeunemaitre Xavier, Fiessinger Jean-Noël
Abstract excerpt
The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. It is distinguished from other forms of EDS by its unstable acrogeric morphotype and by vascular, gastrointestinal, and obstetrical complications. Diagnosis is based on various clinical signs, noninvasive imaging, and on the identification of a mutation of the COL3A1 gene, which provides...
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