title: EEC syndrome-like phenotype in a patient with an IRF6 mutation.
authors.affiliation: Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. kosaki-r@ncchd.go.jp
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Kaneko
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors