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Article

Genetic analysis of Wnt/PCP genes in neural tube defects.

BMC medical genomics - 4 Apr 2018

Chen Zhongzhong, Lei Yunping, Cao Xuanye, Zheng Yufang, Wang Fang, Bao Yihua, Peng Rui, Finnell Richard H, Zhang Ting, Wang Hongyan

Abstract excerpt

BACKGROUND: Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes have been shown to cause neural tube defects (NTDs) through the disruption of normal morphogenetic processes critical to neural tube closure (NTC). Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting...

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Identifiers

PMID: 29618362
DOI: 10.1186/s12920-018-0355-9
PMCID: PMC5885375

Genes

CELSR1
CELSR2
CELSR3
DVL3

Variants

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