Associated Papers
Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene.
Ouyang L et al.
Frontiers in Genetics, 2024
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
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.
Thomas P et al.
Frontiers in Cardiovascular Medicine, 2021
FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia.
Yu SL et al.
Scientific Reports, 2020
Giant aortic aneurysm due to fibulin- 4 deficiency: case series.
Sülü A et al.
Turk Pediatri Arsivi, 2019
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
Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.
Sasaki T et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2016
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