Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

@article{Takenouchi2013SevereCL,
  title={Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype},
  author={Toshiki Takenouchi and Mariko Hida and Yoshiaki Sakamoto and Chiharu Torii and Rika Kosaki and Takao Takahashi and Kenjiro Kosaki},
  journal={American Journal of Medical Genetics Part A},
  year={2013},
  volume={161},
  pages={3057 - 3062}
}
Recently, three marfanoid patients with congenital lipodystrophy and a neonatal progeroid appearance were reported. Although their phenotype was distinct from that of classic Marfan syndrome, they all had a truncating mutation in the penultimate exon, i.e., exon 64, of FBN1, the causative gene for Marfan syndrome. These patients might represent a new entity, but the exact phenotypic and genotypic spectrum remains unknown. Here, we report on a girl born prematurely who exhibited severe… 
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