Article
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
Clinical genetics - 1 Aug 2011
De Luca Alessandro, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici M L, Vergara P, De Zorzi A, Versacci P, Digilio M C, Marino B, Dallapiccola B
Abstract excerpt
Conotruncal defects (CTDs) represent 15-20% of all congenital heart defects. Mutations in a number of genes have been associated with CTD in humans and animal models. We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double...
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