Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.
Kunz
J
J
Hudler
M
M
Fritz
B
B
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography; D017421:Sequence Analysis; D014157:Transcription Factors; D051879:Twist-Related Protein 1
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1