Screening for novel PAX3 polymorphisms and risks of spina bifida.

  title={Screening for novel PAX3 polymorphisms and risks of spina bifida.},
  author={Wei Lu and Huiping Zhu and Shu Kou Wen and C{\'e}cile Laurent and Gary M Shaw and Edward J. Lammer and Richard H. Finnell},
  journal={Birth defects research. Part A, Clinical and molecular teratology},
  volume={79 1},
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 87 nonmalformed infant controls. The conserved paired-box domain as well as the… CONTINUE READING


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