Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

ConclusionWe detected potentially pathogenic PTK7 variants in 1.1% of our NTD cohort. Our findings implicate PTK7 as a risk factor for NTDs and provide additional evidence for a pathogenic role of PCP signaling in these malformations. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - September 1, 2015 Category: Perinatology & Neonatology Authors: Mingqin Wang, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Valeria Capra, Zoha Kibar Tags: Brief Report Source Type: research