Condition: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB


rs888015688 in EFEMP2 gene and CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB PMID 17937443 2007 Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

rs1555042727 in EFEMP2;MUS81 gene and CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB PMID 2038931 1991 Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia.

PMID 27339457 2016 Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.