Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

@article{Birkeland2011NovelIM,
  title={Novel IRF6 mutations in Honduran Van der Woude syndrome patients.},
  author={Andrew C. Birkeland and Yuna C Larrabee and David T Kent and Carlos Flores and Gloria H. Su and Joseph H Lee and Joseph Haddad},
  journal={Molecular medicine reports},
  year={2011},
  volume={4 2},
  pages={237-41}
}
Van der Woude syndrome (VWS) is an autosomal dominant inherited disease characterized by lower lip pits, cleft lip and/or cleft palate. Missense, nonsense and frameshift mutations in IRF6 have been revealed to be responsible for VWS in European, Asian, North American and Brazilian populations. However, the mutations responsible for VWS have not been studied in Central American populations. Here, we investigated the role of IRF6 in patients with VWS in a previously unstudied Honduran population… CONTINUE READING