De Novo Heterozygous FBN1 Mutations in the Extreme C-Terminal Region Cause Progeroid Fibrillinopathy

Ítems similars

• Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
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• Juvenile-onset Generalized Lipodystrophy due to a Novel Heterozygous Missense LMNA Mutation Affecting Lamin C
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• Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
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• Overlapping syndrome with Familial Partial Lipodystrophy, Dunnigan variety and Cardiomyopathy due to Amino-terminal Heterozygous Missense lamin A/C Mutations
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• Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR
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