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Paper Details

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
Mol Genet Genomic Med
5
2020
FBN1, FBN1 missense variant, FBN1 mutations, MFS, Marfan syndrome, Met2273Thr, Tyr754Cys, aortic dilatation, aortic dissection, cerebral and ocular aneurysms, dominant monogenic disorder, fibrillin, fibrillin 1, myocardial infarction, p, p.Met2273Thr, p.Tyr754Cys
Author NameAffiliation
Kim M SummersMater Research Institute-University of Queensland, Translational Research Institute
Matthew A BrownInstitute of Health and Biomedical Innovation, Queensland University of Technology at Translational Research Institute
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Release 1.2