Disease: Cutis Laxa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.010 GeneticVariation BEFREE Histological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation showed a lack of fibulin-5 in the extracellular matrix and a concomitant disorganization of dermal elastic fibers. 17035250 2006