Associated Papers
Beyond the usual suspects: Autosomal recessive forms of childhood-onset thoracic aortic disease.
D'hulst S et al.
International Journal of Cardiology, 2025
Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population.
Almostafa AE et al.
International Journal of Cardiology, 2025
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
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
Al-Hassnan ZN et al.
The American Journal of Cardiology, 2012
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