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Article

Digenic variants of planar cell polarity genes in human neural tube defect patients.

Molecular genetics and metabolism - 1 May 2018

Wang Linlin, Xiao Yanhui, Tian Tian, Jin Lei, Lei Yunping, Finnell Richard H, Ren Aiguo

Abstract excerpt

Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire...

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Source

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Identifiers

PMID: 29573971
DOI: 10.1016/j.ymgme.2018.03.005
PMCID: PMC5966321

Genes

CELSR1
SCRIB
DVL3
PTK7
DVL2
VANGL1
VANGL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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