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
[Progeroid syndromes : Aging, skin aging, and mechanisms of progeroid syndromes].
Koschitzki K et al.
Dermatologie (heidelberg, Germany), 2023
37650893 (PubMed )
Supplement: 105_2023_5212_MOESM1_ESM.xlsx › Tabelle1
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
Passarge E et al.
European Journal of Human Genetics : Ejhg, 2016
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
Garg A et al.
American Journal of Medical Genetics. Part A, 2014
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