Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2-p22.3: a case report and literature review
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Duplication of 6p is a rare genetic syndrome of which about 25% have one or more congenital cardiac defects including cardiac septal defects, pulmonary artery hypoplasia and patent ductus arteriosus. We present the first case of a fetus with functional single ... ...