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  • Title: Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
    Author: Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL.
    Journal: Am J Med Genet A; 2014 May; 164A(5):1318-21. PubMed ID: 24665065.
    Abstract:
    Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities.
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