Original paper
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Abstract
PurposeTo determine disease-associated single-gene variants in conotruncal defects, particularly tetralogy of Fallot (TOF).MethodsWe analyzed for rare loss-of-function and deleterious variants in FLT4 (VEGFR3) and other genes in the vascular endothelial growth factor (VEGF) pathway, as part of a genome sequencing study involving 175 adults with TOF from a single site.ResultsWe identified nine (5.1%) probands with novel FLT4 variants: seven...
Paper Details
Title
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Published Date
Apr 1, 2019
Journal
Volume
21
Issue
4
Pages
1001 - 1007
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Notes
History