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

Samankaltaisia teoksia

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