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Article

Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.

Pediatric research - 1 Nov 2017

Couto Javier A, Konczyk Dennis J, Vivero Matthew P, Kozakewich Harry P W, Upton Joseph, Fu Xi, Padwa Bonnie L, Mulliken John B, Warman Matthew L, Greene Arin K

Abstract excerpt

BackgroundFacial infiltrating lipomatosis (FIL) is a congenital disorder that causes overgrowth of one side of the face. The purpose of this study was to determine whether PIK3CA mutations are present in tissues outside of the subcutaneous adipose.MethodsFIL tissues from three patients were dissected to enrich for cells from skin, subcutaneous tissue, orbicularis oris muscle, buccal fat, zygomatic bone, and...

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Source

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Identifiers

PMID: 28665924
DOI: 10.1038/pr.2017.155
PMCID: PMC5645230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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