title: Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
abstract: We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.
authors.affiliation: Department of Endocrinology, Kobe City General Hospital, Kobe, Japan. hiromasa_kobayashi@medical.general.hp.city.kobe.jp
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Megumu
authors.initials: M
authors.lastname: Hino
authors.forename: Makiko
authors.initials: M
authors.lastname: Shimodahira
authors.forename: Toshio
authors.initials: T
authors.lastname: Iwakura
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishihara
authors.forename: Katsuji
authors.initials: K
authors.lastname: Ikekubo
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Kazuwa
authors.initials: K
authors.lastname: Nakao
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kurahachi
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins; D014157:Transcription Factors; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors