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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465732/
https://www.ncbi.nlm.nih.gov/pubmed/30689296
http://dx.doi.org/10.1002/mgg3.584

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465732/
https://www.ncbi.nlm.nih.gov/pubmed/30689296
http://dx.doi.org/10.1002/mgg3.584

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