Article
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Pediatric dermatology - 1 May 2018
Denorme Pieter, Morren Marie-Anne, Hollants Silke, Spaepen Marijke, Suaer Kate, Zutterman Nele, Labarque Veerle, Legius Eric, Brems Hilde
Abstract excerpt
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...
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