title: Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kono
authors.affiliation: Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
authors.forename: Fumihiro
authors.initials: F
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Mutsumi
authors.initials: M
authors.lastname: Suganuma
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Division for Medical Research Engineering, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yasutomo
authors.initials: Y
authors.lastname: Ito
authors.affiliation: Department of Dermatology, Oita University Faculty of Medicine, Yufu, Japan.
authors.forename: Sakuhei
authors.initials: S
authors.lastname: Fujiwara
authors.affiliation: Department of Dermatology, Osaka Medical College, Takatsuki, Japan.
authors.forename: Shinichi
authors.initials: S
authors.lastname: Moriwaki
authors.affiliation: Department of Dermatology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Matsumoto
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: makiyama@med.nagoya-u.ac.jp.
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D009421:Nervous System Malformations / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase