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
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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