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      Eyelid myxoma in Carney complex without PRKAR1A allelic loss.

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          Abstract

          Eyelid nodules were investigated in a patient with Carney complex who was heterozygous for the most commonly known PRKAR1A-inactivating mutation, c.578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion.

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          Author and article information

          Journal
          Am J Med Genet A
          American journal of medical genetics. Part A
          Wiley
          1552-4825
          1552-4825
          Nov 01 2004
          : 130A
          : 4
          Affiliations
          [1 ] Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA. tsiloue@nei.nih.gov
          Article
          10.1002/ajmg.a.30279
          15368482
          eef807a1-a1ba-4e73-9cbe-b2b6d4de0f54
          Published 2004 Wiley-Liss, Inc.
          History

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