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- W3048338504 abstract "Abstract We report the case of a 5‐year‐old girl with congenital right‐sided facial hemihypertrophy and right hemi‐macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA ‐related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA H1047R . CILF/PROS should be considered in the differential diagnosis of mucosal neuromas." @default.
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- W3048338504 date "2020-08-08" @default.
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- W3048338504 title "Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a <i>PIK3CA</i> mutation" @default.
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- W3048338504 doi "https://doi.org/10.1111/pde.14302" @default.
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