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
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
Select a paper to view details