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[The major current concept for the pathogenesis of the Down Syndrome (DS) phenotype including congenital heart disease (CHD) is the so-called gene dosage effect. According to this hypothesis, genes encoded by chromosome 21 at the critical region (which is thought to be crucial for the development of the DS phenotype) are overexpressed in the trisomic state, thus leading to an imbalance of genes as, e.g., the protooncogene ets-2, superoxide dismutase, etc.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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