title: Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.
authors.forename: R
authors.initials: R
authors.lastname: Pop
authors.forename: C
authors.initials: C
authors.lastname: Conz
authors.forename: K S
authors.initials: KS
authors.lastname: Lindenberg
authors.forename: S
authors.initials: S
authors.lastname: Blesson
authors.forename: B
authors.initials: B
authors.lastname: Schmalenberger
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: D
authors.initials: D
authors.lastname: Pfeifer
authors.forename: G
authors.initials: G
authors.lastname: Scherer
mesh_terms: D024506:5' Flanking Region; D000818:Animals; D001483:Base Sequence; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D017124:Conserved Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D012734:Disorders of Sex Development; D005260:Female; D005399:Fishes / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012045:Regulatory Sequences, Nucleic Acid; D015203:Reproducibility of Results; D055758:SOX9 Transcription Factor; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C527933:Sox9 protein, mouse; D014157:Transcription Factors