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• W2081589969 abstract "Mutations 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." @default.
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• W2081589969 date "2007-01-01" @default.
• W2081589969 modified "2023-10-11" @default.
• W2081589969 title "An association of Hutchinson–Gilford progeria and malignancy" @default.
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• W2081589969 doi "https://doi.org/10.1002/ajmg.a.31803" @default.
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