Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes ( FBN1 and COL3A1 ) and three loci (3p24–25 or MFS2/TAAD2 , 5q13–q14 and 11q23.2–24) has been shown...

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Veröffentlicht in:	European journal of human genetics : EJHG 2004-03, Vol.12 (3), p.173-180
Hauptverfasser:	Khau Van Kien, Philippe, Wolf, Jean-Eric, Mathieu, Flavie, Zhu, Limin, Salve, Nicolas, Lalande, Alain, Bonnet, Caroline, Lesca, Gaëtan, Plauchu, Henri, Dellinger, Arnaud, Nivelon-Chevallier, Annie, Brunotte, François, Jeunemaitre, Xavier
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneurysm Aneurysm, Dissecting - complications Aneurysm, Dissecting - genetics Aneurysm, Dissecting - physiopathology Aneurysms Aorta Aortic Aneurysm, Thoracic - complications Aortic Aneurysm, Thoracic - genetics Aortic Aneurysm, Thoracic - physiopathology AP-2 protein Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Chromosome 3 Computer Science Coronary vessels Cytogenetics Death Death, Sudden - etiology Dissection Ductus Arteriosus, Patent - complications Ductus Arteriosus, Patent - genetics Ductus Arteriosus, Patent - physiopathology Female France Gene Expression General aspects. Genetic counseling Genetic analysis Genetic Linkage - genetics Genetics Genomics Heredity Human Genetics Humans Laboratories Linkage analysis Male Marfan syndrome Medical genetics Medical Imaging Medical sciences Microsatellite Repeats - genetics Mutation Pedigree Single family Stroke - complications Thorax
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