Associated Papers
Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.
Used-Gavín A et al.
European Heart Journal. Case Reports, 2023
Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease.
Nakamura T
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.
Letard P et al.
Molecular Syndromology, 2018
Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.
Igoucheva O et al.
The Journal of Biological Chemistry, 2015
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Hebson C et al.
European Journal of Pediatrics, 2014
Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.
Sawyer SL et al.
American Journal of Medical Genetics. Part A, 2013
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Kappanayil M et al.
Orphanet Journal of Rare Diseases, 2012
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M et al.
European Journal of Human Genetics : Ejhg, 2010
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