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Article

Screening for novel PAX3 polymorphisms and risks of spina bifida.

Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2007

Lu Wei, Zhu Huiping, Wen Shu, Laurent Cecile, Shaw Gary M, Lammer Edward J, Finnell Richard H

Abstract excerpt

BACKGROUND: PAX3 plays an important role in mammalian embryonic development. Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs. METHODS: The study sample included 74 infants with spina bifida (cases) and...

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Source

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Identifiers

PMID: 17149730
DOI: 10.1002/bdra.20322
PMCID: PMC6532638

Genes

PAX3

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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