Condition: Cutis Laxa, Autosomal Dominant
rs794729201
in
ELN
gene and
Cutis Laxa, Autosomal Dominant
PMID 9215671
1997 Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
PMID 21309044
2011 New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
PMID 18348261
2008 Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.