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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha: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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