Disease: Salzmann nodular dystrophy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339271
Disease: Salzmann nodular dystrophy
Salzmann nodular dystrophy 		0.010 GeneticVariation disease BEFREE In contrast with the patient carrying the Gly623Asp mutation of the TGFBI gene described by Afshari et al, our cases presented with Salzmann's nodular degeneration-like clinical features and their specimens contained KE2-positive amyloid. 19019446 2009