BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.010 GeneticVariation disease BEFREE We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation. 19095983 2009