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.
Pop
R
R
Conz
C
C
Lindenberg
K S
KS
Blesson
S
S
Schmalenberger
B
B
Briault
S
S
Pfeifer
D
D
Scherer
G
G
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*
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C527933:Sox9 protein, mouse; D014157:Transcription Factors