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

Antzeko izenburuak

• Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
  nork: Garg, Abhimanyu, et al.
  Argitaratua: (2009)
• Juvenile-onset Generalized Lipodystrophy due to a Novel Heterozygous Missense LMNA Mutation Affecting Lamin C
  nork: Patni, Nivedita, et al.
  Argitaratua: (2017)
• Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
  nork: Passarge, Eberhard, et al.
  Argitaratua: (2016)
• Overlapping syndrome with Familial Partial Lipodystrophy, Dunnigan variety and Cardiomyopathy due to Amino-terminal Heterozygous Missense lamin A/C Mutations
  nork: Subramanyam, Lalitha, et al.
  Argitaratua: (2009)
• Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR
  nork: Shetty, Shilpa, et al.
  Argitaratua: (2016)