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  • Title: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
    Author: Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.
    Journal: Pediatr Dermatol; 2018 May; 35(3):e186-e188. PubMed ID: 29493003.
    Abstract:
    A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
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