Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.
Zhiwen ShiXueyan YangBin-Bin LiShuxia ChenLuming YangLiangping ChengTing ZhangHongyan WangYu-Fang ZhengPublished in: Birth defects research (2017)
Our results suggested that over-active canonical WNT signaling induced by gain-of-function mutation in LRP6 could also contribute to human NTDs, and a balanced WNT/β-catenin and PCP signaling is probably required for proper neural tube development. Birth Defects Research 110:63-71, 2018. © 2017 Wiley Periodicals, Inc.