Article
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
Škorić-Milosavljević Doris, Lahrouchi Najim, Bosada Fernanda M, Dombrowsky Gregor, Williams Simon G, Lesurf Robert, Tjong Fleur V Y, Walsh Roddy, El Bouchikhi Ihssane, Breckpot Jeroen, Audain Enrique, Ilgun Aho, Beekman Leander, Ratbi Ilham, Strong Alanna, Muenke Maximilian, Heide Solveig, Muir Alison M, Hababa Mariam, Cross Laura, Zhou Dihong, Pastinen Tomi, Zackai Elaine, Atmani Samir, Ouldim Karim, Adadi Najlae, Steindl Katharina, Rauch Anita, Brook David, Wilsdon Anna, Kuipers Irene, Blom Nico A, Mulder Barbara J, Mefford Heather C, Keren Boris, Joset Pascal, Kruszka Paul, Thiffault Isabelle, Sheppard Sarah E, Roberts Amy, Lodder Elisabeth M, Keavney Bernard D, Clur Sally-Ann B, Mital Seema, Hitz Marc-Philip, Christoffels Vincent M, Postma Alex V, Bezzina Connie R
Abstract excerpt
PURPOSE: 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. METHODS: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. We studied...
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