Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.

@article{Scapoli2005StrongEO,
  title={Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.},
  author={Luca Scapoli and Annalisa Palmieri and Marcella Martinelli and Furio Pezzetti and Paolo Carinci and Mauro Tognon and Francesco Carinci},
  journal={American journal of human genetics},
  year={2005},
  volume={76 1},
  pages={
          180-3
        }
}
Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects, but its etiology is largely unknown. It is very likely that both genetic and environmental factors contribute to this malformation. Mutations in the gene for interferon regulatory factor 6 (IRF6) have been shown to be the cause of Van der Woude syndrome, a dominant disorder that has CL/P as a common feature. Recently, it has been reported that genetic polymorphisms at the IRF6 locus are associated with… CONTINUE READING
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