Associated Papers
Beyond the genome: a rare case report of cutis laxa.
Almheiri S et al.
Ame Case Reports, 2026
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
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
Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.
Yetman AT et al.
World Journal for Pediatric & Congenital Heart Surgery, 2019
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