Lamin A Truncation in Hutchinson-Gilford Progeria

@article{DeSandreGiovannoli2003LaminAT,
  title={Lamin A Truncation in Hutchinson-Gilford Progeria},
  author={Annachiara De Sandre-Giovannoli and Rafaëlle Bernard and Pierre Cau and Claire Laure Navarro and Jeanne Amiel and Irène Boccaccio and Stanislas Lyonnet and Colin L Stewart and Arnold Munnich and Martine le Merrer and Nicolas L{\'e}vy},
  journal={Science},
  year={2003},
  volume={300},
  pages={2055 - 2055}
}
Little is known about the pathophysiology of human senescence. Hutchinson-Gilford progeria syndrome (HGPS) is an exceedingly rare but typical progeria, clinically characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature atherosclerosis, absence of subcutaneous fat, 
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Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
TLDR
A comprehensive literature review of the clinical features and genetic mutations and mechanisms of Hutchinson-Gilford progeria syndrome shows the necessity of a more detailed clinical identification and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome. Expand
Hutchinson-Gilford progeria syndrome
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A 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months develops alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS. Expand
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