Associated Papers
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
99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population.
Wang Z et al.
Biomed Research International, 2020
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
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