Article
Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.
Orphanet journal of rare diseases - 7 May 2022
Rodríguez-Laguna Lara, Davis Kristen, Finger Mellenee, Aubel Dawn, Vlamis Robin, Johnson Craig
Abstract excerpt
BACKGROUND: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to...
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