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.