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
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Driver SGW et al.
European Journal of Human Genetics : Ejhg, 2020
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