Article
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2015
Merello E, Mascelli S, Raso A, Piatelli G, Consales A, Cama A, Kibar Z, Capra V, Marco Patrizia De
Abstract excerpt
BACKGROUND: Neural Tube Defects (NTD) are a common class of birth defects that occur in approximately 1 in 1000 live births. Both genetic and nongenetic factors are involved in the etiology of NTD. Planar cell polarity (PCP) genes plays a critical role in neural tube closure in model organisms. Studies in humans have identified nonsynonymous mutations in PCP pathway genes, including the VANGL genes, that may play...
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