title: Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene.
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Okamura
authors.affiliation: Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Oiso
authors.affiliation: Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Tamiya
authors.affiliation: Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Makino
authors.affiliation: Department of Ophthalmology, Sakai Hospital Kinki University Faculty of Medicine, Sakai, Japan.
authors.forename: Daishi
authors.initials: D
authors.lastname: Tsujioka
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Abe
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Masakazu
authors.initials: M
authors.lastname: Kawaguchi
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Hozumi
authors.affiliation: Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
mesh_terms: D044466:Asian People / Q000235:genetics; D006801:Humans; D007498:Iris / Q000473:pathology; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors