VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

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 phenot...

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Autores principales: CALDERÓN,JUAN FRANCISCO, PUGA,ALONSO R, GUZMÁN,M. LUISA, ASTETE,CARMEN PAZ, ARRIAZA,MARTA, ARACENA,MARIANA, ARAVENA,TERESA, SANZ,PATRICIA, REPETTO,GABRIELA M
Lenguaje:English
Publicado: Sociedad de Biología de Chile 2009
Materias:
congenital heart disease
DiGeorge syndrome
genetic modifiers
VEGFA
velocardiofacial syndrome
Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007
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