Article
An association of Hutchinson-Gilford progeria and malignancy.
American journal of medical genetics. Part A - 15 Aug 2007
Shalev Stavit A, De Sandre-Giovannoli Annachiara, Shani Ayelet Adir, Levy Nicolas
Abstract excerpt
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...
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