Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.
Schafer
A J
AJ
Department of Genetics, University of Cambridge, UK.
Foster
J W
JW
Kwok
C
C
Weller
P A
PA
Guioli
S
S
Goodfellow
P N
PN
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
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors