title: SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia.
abstract: An SOX9 mutation in a previously published case of campomelic dysplasia is described. This case did not have overt campomelia of the femora or tibiae although campomelic dysplasia has subsequently been confirmed by gene analysis.
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
authors.forename: E
authors.initials: E
authors.lastname: Schaefer
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
authors.forename: G
authors.initials: G
authors.lastname: Scherer
mesh_terms: D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors