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Article

PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis

30 Dec 2013

Abstract excerpt

BACKGROUND: Facial infiltrating lipomatosis is a nonheritable disorder characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development, macrodontia, hemimacroglossia, and mucosal neuromas. The authors tested the hypothesis that this condition is caused by a somatic mutation in the phosphatidylinositide-3 kinase (PI3K) signaling pathway, which has been indicted in other anomalies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24374682
DOI: 10.1097/01.prs.0000436822.26709.7c

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