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Novel Mutations in VANGL1 in Neural Tube Defects
Journal article   Open access   Peer reviewed

Novel Mutations in VANGL1 in Neural Tube Defects

Zoha Kibar, Ciprian M Bosoi, Megan Kooistra, Sandra Salem, Richard H Finnell, Patrizia De Marco, Elisa Merello, Alexander G Bassuk, Valeria Capra and Philippe Gros
Human mutation, Vol.30(7), pp.E706-E715
07/2009
DOI: 10.1002/humu.21026
PMCID: PMC2885434
PMID: 19319979
url
https://doi.org/10.1002/humu.21026View
Published (Version of record) Open Access

Abstract

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 planar cell polarity neural tube defects

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