SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: 46,XX SEX REVERSAL 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.010 GeneticVariation disease BEFREE We investigated 13 additional subjects with SRY-negative 46,XX sex reversal for microduplication of chromosome arm 22q in the region of SOX10 gene, but could not find evidence for it. 15108202 2004