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| CALDERÓN,JUAN FRANCISCO; PUGA,ALONSO R; GUZMÁN,M. LUISA; ASTETE,CARMEN PAZ; ARRIAZA,MARTA; ARACENA,MARIANA; ARAVENA,TERESA; SANZ,PATRICIA; REPETTO,GABRIELA M. |
| Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for the vascular endothelial growth factor A, have been associated with non-syndromic congenital heart disease, as well as with the presence of cardiovascular anomalies in patients with microdeletion 22q11. We evaluated the association of VEGFA polymorphisms c.-2578C>A (rs699947), c.-1154G>A (rs1570360) and c.-634C>G (rs2010963) with congenital heart disease in... |
| Tipo: Journal article |
Palavras-chave: Congenital heart disease; DiGeorge syndrome; Genetic modifiers; VEGFA; Velocardiofacial syndrome. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007 |
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