title: Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
authors.affiliation: Department of Genetics, University of Cambridge, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Schafer
authors.forename: J W
authors.initials: JW
authors.lastname: Foster
authors.forename: C
authors.initials: C
authors.lastname: Kwok
authors.forename: P A
authors.initials: PA
authors.lastname: Weller
authors.forename: S
authors.initials: S
authors.lastname: Guioli
authors.forename: P N
authors.initials: PN
authors.lastname: Goodfellow
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D012734:Disorders of Sex Development; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D055758:SOX9 Transcription Factor; D012733:Sex Differentiation; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors