Article

Delineation of Phenotypes and Genotypes of Facial Infiltrating Lipomatosis Associated with PIK3CA Mutations

2023-03-16

Abstract excerpt

<title>Abstract</title> <p>Background: Facial infiltrative lipomatosis (FIL) is a rare congenital disorder characterized by unilateral facial swelling, for which surgery is the prevailing therapeutic option. Several studies have shown that the development of the FIL is closely associated with PIK3CA mutations. This study aimed to further identify the rare clinical features as well as the underlying molecular vari...

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Literature Corpus work: 231d6165-f9eb-5c4b-87e3-006ff6f6f390
DOI: 10.21203/rs.3.rs-2665844/v1

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