Article
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.
Birth defects research. Part A, Clinical and molecular teratology - 1 Mar 2012
Allache Redouane, De Marco Patrizia, Merello Elisa, Capra Valeria, Kibar Zoha
Abstract excerpt
BACKGROUND: Neural tube defects (NTDs), including anencephaly and spina bifida, have a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts. In this genetic study, we examined the core PCP gene CELSR1 in NTDs and caudal agenesis cases to determine whether mutations at this gene predispose to these defects. METHODS:...
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