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Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects
Cardiology in the Young, 10/22/09
Hamanoue H et al. – The authors found only 1 novel mutation of GATA4 in those with atrial septal defecst. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. They failed to discover any other mutations of either the GATA4 or NKX2–5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.
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