LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

@article{Cao2003LMNAIM,
  title={LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)},
  author={Henian Cao and Robert A Hegele},
  journal={Journal of Human Genetics},
  year={2003},
  volume={48},
  pages={271-274}
}
AbstractHutchinson-Gilford progeria syndrome (HGPS; MIM 176670) is an extremely rare disease that is characterized by accelerated aging and early death, frequently from coronary artery disease. Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is another extremely rare disease that is characterized by progeroid features from birth with multiple somatic anomalies and paucity of subcutaneous fat. Because mutations in LMNA, encoding nuclear lamin A/C, cause other lipodystrophy syndromes, we… CONTINUE READING

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Uniparental isodisomy of chromosome 1q in a patient with Hutchinson-Gilford progeria syndrome (Abstract)

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