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Klippel Trenaunay syndrome
- Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and ... and bones, and vein malformations.Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This ...
- ... the PIK3CA gene have been found to cause Klippel-Trenaunay syndrome. This condition is characterized by a red birthmark ... as mosaicism.The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome change single protein building blocks (amino acids) in ...
- ... MCAP is one of several overgrowth syndromes, including Klippel-Trenaunay syndrome, that are caused by mutations in the PIK3CA ...