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Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

The data summarized in this letter provide further evidence that the pathogenic mechanism underlying peripheral nerve enlargement as a phenotypic manifestation in PROS (PIK3CA-related overgrowth spectrum) may be genetically distinct from that of intraneural perineuriomas or soft tissue perineuriomas...

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Detalles Bibliográficos
Autores principales: Maldonado, Andrés A., Spinner, Robert J., Carter, Jodi M., Klein, Christopher J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9065421/
https://www.ncbi.nlm.nih.gov/pubmed/35519824
http://dx.doi.org/10.1016/j.xhgg.2022.100110
Descripción
Sumario:The data summarized in this letter provide further evidence that the pathogenic mechanism underlying peripheral nerve enlargement as a phenotypic manifestation in PROS (PIK3CA-related overgrowth spectrum) may be genetically distinct from that of intraneural perineuriomas or soft tissue perineuriomas.