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Variants identified in PTK7 associated with neural tube defects

28 Jan 2019

Abstract excerpt

Abstract 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 that are doubly heterozygous for Ptk7XST87 and Vangl2Lp mutations present with spina bifida. Methods In...

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PMID: 30689296
DOI: 10.1002/mgg3.584

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