A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I.
Gentile
M
M
Fiorente
P
P
Buonadonna
A L
AL
Macina
F
F
Cariola
F
F
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
D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors