• Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects

    17 days ago - By Springer

    Abstract
    Extensive studies that have sought causative mutation(s) for neural tube defects have yielded limited positive findings to date. One possible reason for this is that many studies have been confined to analyses of germline mutations and so may have missed other, non-germline mutations in NTD cases. We hypothesize that somatic mutations of planar polarity pathway genes may play a role in the development of NTDs. Torrentâ„¢ Personal Genome Machineâ„¢ sequencing was designed for selected PCP genes in paired DNA samples extracted from the tissues of lesion sites and umbilical cord from 48...
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