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Screening for Novel PAX3 Polymorphisms and Risks of Spina Bifida

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 n...

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Detalhes bibliográficos
Publicado no:Birth Defects Res A Clin Mol Teratol
Main Authors: Lu, Wei, Zhu, Huiping, Wen, Shu, Laurent, Cecile, Shaw, Gary M., Lammer, Edward J., Finnell, Richard H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6532638/
https://ncbi.nlm.nih.gov/pubmed/17149730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.20322
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