title: Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.
authors.forename: Shuhua
authors.initials: S
authors.lastname: Zhou
authors.forename: Dehui
authors.initials: D
authors.lastname: Jin
authors.forename: Yali
authors.initials: Y
authors.lastname: Song
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005385:Fingers / Q000002:abnormalities*; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D012097:Repressor Proteins; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors