Associated Papers
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
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I et al.
American Journal of Medical Genetics. Part A, 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
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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