Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

Author:

Milewicz Dianna M.,Chen Hua,Park Eun-Sook,Petty Elizabeth M.,Zaghi Hedayatollah,Pai G.Shashidhar,Willing Marcia,Patel Vasant

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference16 articles.

1. Diseases of the aorta;Eagle,1992

2. Medionecrosis aortae idiopathica cystica;Erdheim;Virchows Arch Path Anat,1930

3. Familial aortic dissecting aneurysm;Nicod;J Am Coll Cardiol,1989

4. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum Mol Genet,1995

5. A gly 1127 ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection;Francke;Am J Hum Genet,1995

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