Variants identified in PTK7 associated with neural tube defects

BACKGROUND: Variants in planar cell polarity (PCP) pathway genes have been repeatedly implicated in the pathogenesis of NTDs in both mouse models and in human cohorts. Mouse models indicate that the homogenous disruption of the Ptk7 gene, a PCP regulator, results in craniorachischisis; while embryos...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Lei, Yunping, Kim, Sung‐Eun, Chen, Zhongzhong, Cao, Xuanye, Zhu, Huiping, Yang, Wei, Shaw, Gary M., Zheng, Yufang, Zhang, Ting, Wang, Hong‐Yan, Finnell, Richard H.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465732/
https://ncbi.nlm.nih.gov/pubmed/30689296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.584
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