The mildest form of campomelic dysplasia.
Unger
Sheila
S
D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors