Associated Papers
A review of the role of EFEMP1 in ophthalmic disease.
Wood AJ et al.
Ophthalmic Genetics, 2025
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.
Mol MO et al.
European Journal of Human Genetics : Ejhg, 2024
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Verlee M et al.
Genes, 2021
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Daniel S et al.
Journal of Molecular Medicine (berlin, Germany), 2020
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Driver SGW et al.
European Journal of Human Genetics : Ejhg, 2020
Select a paper to view details