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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Original Articles
Accés en línia: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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