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Am. J. Med. Genet. A · Aug 2007
Case ReportsAn association of Hutchinson-Gilford progeria and malignancy.
- Stavit A Shalev, Annachiara De Sandre-Giovannoli, Ayelet Adir Shani, and Nicolas Levy.
- The Genetics Institute, Ha'Emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
- Am. J. Med. Genet. A. 2007 Aug 15; 143A (16): 1821-6.
AbstractMutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as "laminopathies," including the segmental premature aging syndrome Hutchinson-Gilford progeria. We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation. These findings are discussed in light of recent data on the pathophysiological mechanisms underlying progeria and "physiological" aging in human, as well as previous data on other well-known segmental aging syndromes.(c) 2007 Wiley-Liss, Inc.
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