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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

2021; Elsevier BV; Volume: 23; Issue: 10 Linguagem: Inglês

10.1038/s41436-021-01212-y

1530-0366

Doris Škorić‐Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Marc‐Phillip Hitz, Hashim Abdul‐Khaliq, Felix Berger, Ingo Dähnert, Sven Dittrich, Anselm Uebing, Brigitte Stiller, Elaine H. Zackai, S. Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, J. David Brook, Anna Wilsdon, Irene M. Kuipers, Nico A. Blom, Barbara J.M. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy E. Roberts, Elisabeth M. Lodder, Bernard Keavney, Sally‐Ann B. Clur, Seema Mital, Marc‐Phillip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina,

Coronary Artery Anomalies

Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.