Pathology

 germline mutations in atrial septal defect
 cardiac malformations

References

 Packham EA, David Brook J. Interaction makes the heart grow stronger. Trends Mol Med. 2003 Oct;9(10):407-9. PMID: #14557051#

 Garg, V.; Kathiriya, I. S.; Barnes, R.; Schluterman, M. K.; King, I. N.; Butler, C. A.; Rothrock, C. R.; Eapen, R. S.; Hirayama-Yamada, K.; Joo, K.; Matsuoka, R.; Cohen, J. C.; Srivastava, D. : GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447, 2003. PMID : 12845333