title: A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.
authors.affiliation: Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Farooq
authors.forename: Hiroki
authors.initials: H
authors.lastname: Fujikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fujimoto
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kubo
authors.forename: Masaaki
authors.initials: M
authors.lastname: Ito
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007564:Japan; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors