title: A novel MITF splice site mutation in a family with Waardenburg syndrome.
authors.forename: Fumiko
authors.initials: F
authors.lastname: Monma
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Hozumi
authors.forename: Masakazu
authors.initials: M
authors.lastname: Kawaguchi
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Katagiri
authors.forename: Tomoo
authors.initials: T
authors.lastname: Watanabe
authors.forename: Ito
authors.initials: I
authors.lastname: Yoshihiko
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005190:Family; D006801:Humans; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D009154:Mutation; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor