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Article

Identification of novel CELSR1 mutations in spina bifida.

PloS one - 1 Jan 2014

Lei Yunping, Zhu Huiping, Yang Wei, Ross M Elizabeth, Shaw Gary M, Finnell Richard H

Abstract excerpt

Spina bifida is one of the most common neural tube defects (NTDs) with a complex etiology. Variants in planar cell polarity (PCP) genes have been associated with NTDs including spina bifida in both animal models and human cohorts. In this study, we sequenced all exons of CELSR1 in 192 spina bifida patients from a California population to determine the contribution of CELSR1 mutations in the studied population....

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Source

Open in PubMed Open full text

Identifiers

PMID: 24632739
DOI: 10.1371/journal.pone.0092207
PMCID: PMC3954890

Genes

CELSR1
VANGL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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