Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie, Madeline Couse, Taila Hartley, Wendy Mears, Francois P Bernier, Albert E Chudley, Patrick Frosk, Sarah M Nikkel, A Micheil Innes, Julie Lauzon, Maryann Thomas, Andrea Guerin, Christine M Armour, Rosanna Weksberg, James N Scott, Debra Watkins, Shirley Harvey, Cheryl Cytrynbaum, Kristin D Kernohan, Kym M Boycott
Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel-Trenaunay syndrome, CLAPO syndrome, fibroadipose hyperplasia or overgrowth, hemihyperplasia multiple lipomatosis, and megalencephaly capillary malformation-polymicrogyria (MCAP) syndrome...
November 10, 2023: American Journal of Medical Genetics. Part A