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Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

BACKGROUND: Facial infiltrating 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 FIL is closely associated with PIK3CA mutations. This study aimed to...

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Detalles Bibliográficos
Autores principales: Chen, Hongrui, Sun, Bin, Gao, Wei, Qiu, Yajing, Hua, Chen, Lin, Xiaoxi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10347770/
https://www.ncbi.nlm.nih.gov/pubmed/37452404
http://dx.doi.org/10.1186/s13023-023-02786-3