Associated Papers
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › FBN1
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO et al.
European Journal of Human Genetics : Ejhg, 2024
37684520 (PubMed )
Supplement: 41431_2023_1455_MOESM4_ESM.xlsx › FBN1_variants
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
Nishimura A et al.
American Journal of Medical Genetics. Part A, 2007
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