Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier
Casey A. Gifford, Sanjeev S. Ranade, Ryan Samarakoon, Hazel T. Salunga, Yvanka de Soysa, Yu Huang, Ping Zhou, Aryé Elfenbein, Stacia K. Wyman, Yen Kim Bui, Kimberly R. Cordes Metzler, Philip C. Ursell, Kathryn N. Ivey, Deepak Srivastava
The paper shows that a congenital heart defect can result from three inherited heterozygous missense variants in MYH7, MKL2, and NKX2-5.
bioRxiv · Feb 20, 2018 · PreprintGenetics