TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Disease: Limb defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 GeneticVariation group BEFREE Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. 16530712 2009