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Novel mutations in<i>VANGL1</i>in neural tube defects

24 Mar 2009

Abstract excerpt

Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors. We have recently reported three mutations in the planar cell polarity gene VANGL1 associated with NTDs. The aim of the present study was to define the role of VANGL1 genetic variants in the development of NTDs...

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PMID: 19319979
DOI: 10.1002/humu.21026

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