Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Abstract

Neural tube defects (NTDs) are a heterogeneous group of common severe congenital anomalies which affect 1-2 infants per 1000 births. Most genetic and/or environmental factors that contribute to the pathogenesis of human NTDs are unknown. Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs… (More)
DOI: 10.1093/hmg/ddr359

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