Article
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.
PloS one - 1 Jan 2014
Renard Marjolijn, Trachet Bram, Casteleyn Christophe, Campens Laurence, Cornillie Pieter, Callewaert Bert, Deleye Steven, Vandeghinste Bert, van Heijningen Paula M, Dietz Harry, De Vos Filip, Essers Jeroen, Staelens Steven, Segers Patrick, Loeys Bart, Coucke Paul, De Paepe Anne, De Backer Julie
Abstract excerpt
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor β (TGFβ)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism, bifid uvula/cleft palate and aortic aneurysm and/or arterial tortuosity. LDS is caused by heterozygous loss of function mutations in the genes encoding TGFβ receptor 1...
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