MSX2, msh homeobox 2, 4488

N. diseases: 135; N. variants: 7
Disease: Calvarial skull defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		0.010 GeneticVariation disease BEFREE Sequence analysis further showed that in four out of five families an MSX2 mutation was responsible for the skull defect. 10767351 2000