SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Gonadal Dysgenesis, 46,XY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		0.010 GeneticVariation disease BEFREE Therefore, we screened the coding region and the 5' and 3' flanking region of the SOX3 gene for mutations by means of single-stranded conformation polymorphism and heteroduplex analysis in eight subjects with 46, XX sex reversal (SRY negative) and 25 subjects with 46, XY gonadal dysgenesis. 11153920 2000