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- W1966769209 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. © 2014 Wiley Periodicals, Inc." @default.
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- W1966769209 date "2014-03-24" @default.
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- W1966769209 title "Segmental overgrowth syndrome due to an activating<i>PIK3CA</i>mutation identified in affected muscle tissue by exome sequencing" @default.
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- W1966769209 doi "https://doi.org/10.1002/ajmg.a.36454" @default.
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