FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Cutis laxa, recessive, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432336
Disease: Cutis laxa, recessive, type I
Cutis laxa, recessive, type I 		0.300 GermlineCausalMutation disease ORPHANET Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013