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

Míreanna Comhchosúla

• Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
  le: Garg, Abhimanyu, et al.
  Foilsithe: (2009)
• Juvenile-onset Generalized Lipodystrophy due to a Novel Heterozygous Missense LMNA Mutation Affecting Lamin C
  le: Patni, Nivedita, et al.
  Foilsithe: (2017)
• Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
  le: Passarge, Eberhard, et al.
  Foilsithe: (2016)
• Overlapping syndrome with Familial Partial Lipodystrophy, Dunnigan variety and Cardiomyopathy due to Amino-terminal Heterozygous Missense lamin A/C Mutations
  le: Subramanyam, Lalitha, et al.
  Foilsithe: (2009)
• Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
  le: Jin, Hyung Suk, et al.
  Foilsithe: (2017)