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KTS, Klippel-Trenaunay syndrome; CLOVES syndrome, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal; ILM, isolated lymphatic malformation; MCAP or MCM, megalencephaly-capillary malformation; FAVA, fibroadipose vascular anomaly.
References:
- Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
- Rodriguez-Laguna L, Ibanez K, Gordo G, et al. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Genet Med. 2018;20(8):882-889.
- Limaye N, Kangas J, Mendola A, et al. Somatic activating PIK3CA mutations cause venous malformation. Am J Hum Genet. 2015;97(6):914-921.
