Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
41695747 (PubMed )
Supplement: Supplementaryfile1.xlsx › Table1
IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis.
Shiratori T et al.
International Journal of Dermatology, 2015
No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria.
Sun XK et al.
The British Journal of Dermatology, 2011
Biophysical characterisation of fibulin-5 proteins associated with disease.
Schneider R et al.
Journal of Molecular Biology, 2010
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
Mégarbané H et al.
The Journal of Investigative Dermatology, 2009
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.
Hu Q et al.
The Journal of Investigative Dermatology, 2006
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