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. Author manuscript; available in PMC: 2022 Jul 7.
Published in final edited form as: Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7

Figure 2. Pathogenetic variants in FBN1.

Figure 2.

Schematic of the structure of the protein fibrillin-1, with numbers and location of mutations in FBN1, which encodes fibrillin-1, identified in patients with MFS; the location of de novo pathogenetic variants leading to neonatal MFS is also shown. Mutation data were extracted in 2020 from the last update of the UMD-FBN1 database (Ref 289)