DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
Disease: Split-Hand/Foot Malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.010 GeneticVariation disease BEFREE Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias. 17164413 2007