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GATA 5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient

20 Dec 2015

Abstract excerpt

BACKGROUND: GATA transcription factors are evolutionary conserved zinc finger proteins with multiple roles in cell differentiation/proliferation and organogenesis. GATA5 is only transiently expressed in the embryonic heart, and the inactivation of both Gata5 alleles results in a partially penetrant bicuspid aortic valve (BAV) phenotype in mice. We hypothesized that only biallelic mutations in GATA5 could be...

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PMID: 27066509
DOI: 10.1002/mgg3.190

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