Article
[Genetic screening of Gata4 and Nkx2.5 mutations in hereditary congenital heart defects: 5 familial cases].
Recenti progressi in medicina - 1 Mar 2011
Pulignani Silvia, Foffa Ilenia, Cresci Monica, Vittorini Simona, Ait-Ali Lamia, Andreassi Maria Grazia
Abstract excerpt
Single gene mutations in Gata4 and Nkx2.5 genes have been identified as a causative factor for various clinical forms of hereditary congenital heart diseases (CHDs), especially for cardiac septal defects. However, the role of Gata4 and Nkx2.5 mutations in familial CHD is not clear yet. We report 5 cases of familial CHD with a positive history of cardiac septal defects. Our data suggest that mutations of either...
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