Venous malformations over the neck and chin in PIK3CA gene mutation (PROS-patient1)
Keywords: PIK3CA gene mutation, PROS, Anterior chest, Chin, Male, Neck, Venous malformation
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders caused by somatic mosaic mutations in the PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene and characterised by tissue overgrowth and malformations.
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Source: Professor Deshan Sebaratnam
