Article
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
European journal of human genetics : EJHG - 1 Dec 2010
Meienberg Janine, Rohrbach Marianne, Neuenschwander Stefan, Spanaus Katharina, Giunta Cecilia, Alonso Sira, Arnold Eliane, Henggeler Caroline, Regenass Stephan, Patrignani Andrea, Azzarello-Burri Silvia, Steiner Bernhard, Nygren Anders O H, Carrel Thierry, Steinmann Beat, Mátyás Gábor
Abstract excerpt
Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for...
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