Disease: Craniofacial Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 GeneticVariation group BEFREE This mouse model demonstrates phenotypic overlap with Verloes Bourguignon syndrome, also caused by mutation of LTBP3, which is hallmarked by craniofacial anomalies and amelogenesis imperfecta phenotypes. 28084688 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Bone defects in latent TGF-beta binding protein (Ltbp)-3 null mice; a role for Ltbp in TGF-beta presentation. 12379497 2002
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability. 11790802 2002