title: A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.
abstract: This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).
authors: Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain. lorenaminones@gmail.com
authors: Lorena
authors: L
authors: Miñones-Suárez
authors: Alberto
authors: A
authors: Mas-Vidal
authors: Joaquin
authors: J
authors: Fernandez-Toral
authors: Isabel
authors: I
authors: Llano-Rivas
authors: Manuel
authors: M
authors: González-García
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D005192:Family Health; D006801:Humans; D007223:Infant; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D014427:Twins
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors