De novo heterozygousFBN1mutations in the extreme C-terminal region cause progeroid fibrillinopathy

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon ofFBN1causing a recognizable phenotype

(2013) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease

(2012) P. M. Barrett et al.   HEART

Dissecting the Fibrillin Microfibril: Structural Insights into Organization and Function

(2012) Sacha A. Jensen et al.   STRUCTURE

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Jack Goldblatt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

(2010) Luitgard M. Graul-Neumann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardiovascular manifestations in men and women carrying a FBN1 mutation

(2010) Delphine Détaint et al.   EUROPEAN HEART JOURNAL