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Article

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

18 Sept 2018

Abstract excerpt

PURPOSE: To determine disease-associated single-gene variants in conotruncal defects, particularly tetralogy of Fallot (TOF). METHODS: We 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. RESULTS: We identified nine (5.1%)...

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PMID: 30232381
DOI: 10.1038/s41436-018-0260-9

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