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

doi:10.1007/s12325-022-02246-7

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Article

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

Advances in therapy - 1 Sept 2022

Dexheimer Joy, Mirzaa Ghayda M

Abstract excerpt

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 broad spectrum of overlapping phenotypes that vary considerably in their severity and tissue distribution, leading to...

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PMID: 35857185
DOI: 10.1007/s12325-022-02246-7
PMCID: PMC9297058

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