A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
M
M
Tariq
S
S
Ahmad
W
W
Ahmad
D000293:Adolescent; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors