Interestingly, we also found a highly significant enrichment in cilia genes known to be critical for organ laterality and heart development [25] (and listed from McClintock [26] ) among DE genes in the ASD+VSD cases but also in the AVSD cases ( Table 4 ).
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Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
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