Article
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
Human genetics - 1 Oct 2020
Tian Tian, Lei Yunping, Chen Yongyan, Karki Menuka, Jin Lei, Finnell Richard H, Wang Linlin, Ren Aiguo
Abstract excerpt
Extensive studies that have sought causative mutation(s) for neural tube defects (NTDs) 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 (PCP) genes may play a role in the...
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