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

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...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Reuter, Miriam S., Jobling, Rebekah, Chaturvedi, Rajiv R., Manshaei, Roozbeh, Costain, Gregory, Heung, Tracy, Curtis, Meredith, Hosseini, S. Mohsen, Liston, Eriskay, Lowther, Chelsea, Oechslin, Erwin, Sticht, Heinrich, Thiruvahindrapuram, Bhooma, Mil, Spencer van, Wald, Rachel M., Walker, Susan, Marshall, Christian R., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2018
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752294/
https://ncbi.nlm.nih.gov/pubmed/30232381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0260-9
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