Associated Papers
[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
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2020
Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.
Davis MR et al.
Molecular Genetics and Metabolism, 2016
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
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A et al.
European Journal of Medical Genetics, 2014
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2013
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
Goldblatt J et al.
American Journal of Medical Genetics. Part A, 2011
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