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Article

Mutations in planar cell polarity gene SCRIB are associated with spina bifida.

PloS one - 1 Jan 2013

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

Abstract excerpt

Neural tube defects (NTDs) (OMIM #182940) including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations in planar cell polarity (PCP) genes are believed to cause a variety of NTDs in both mice and humans. SCRIB is a PCP-associated gene. Mice that are homozygous for the...

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Identifiers

PMID: 23922697
DOI: 10.1371/journal.pone.0069262
PMCID: PMC3724847

Genes

SCRIB

Variants

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Mutations in planar cell polarity gene SCRIB are associated with spina bifida.PMID 23922697Read ↗

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defectsSemantic proximity Read ↗

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