A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Cai
J
J
Shoo
B A
BA
Sorauf
T
T
Jabs
E Wang
EW
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D014157:Transcription Factors / Q000235:genetics*; D051879:Twist-Related Protein 1
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1