title: A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I.
authors.forename: M
authors.initials: M
authors.lastname: Gentile
authors.forename: P
authors.initials: P
authors.lastname: Fiorente
authors.forename: A L
authors.initials: AL
authors.lastname: Buonadonna
authors.forename: F
authors.initials: F
authors.lastname: Macina
authors.forename: F
authors.initials: F
authors.lastname: Cariola
mesh_terms: D000328:Adult; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D012097:Repressor Proteins; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors