Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences

PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic, gain-of-function mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a br...

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Detalles Bibliográficos
Autores principales: Dexheimer, Joy, Mirzaa, Ghayda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Healthcare 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297058/
https://www.ncbi.nlm.nih.gov/pubmed/35857185
http://dx.doi.org/10.1007/s12325-022-02246-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297058/
https://www.ncbi.nlm.nih.gov/pubmed/35857185
http://dx.doi.org/10.1007/s12325-022-02246-7

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