Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

doi:10.1016/j.jpeds.2014.12.069

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Article

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

The Journal of pediatrics - 1 Apr 2015

Luks Valerie L, Kamitaki Nolan, Vivero Matthew P, Uller Wibke, Rab Rashed, Bovée Judith V M G, Rialon Kristy L, Guevara Carlos J, Alomari Ahmad I, Greene Arin K, Fishman Steven J, Kozakewich Harry P W, Maclellan Reid A, Mulliken John B, Rahbar Reza, Spencer Samantha A, Trenor Cameron C, Upton Joseph, Zurakowski David, Perkins Jonathan A, Kirsh Andrew, Bennett James T, Dobyns William B, Kurek Kyle C, Warman Matthew L, McCarroll Steven A, Murillo Rudy

Abstract excerpt

OBJECTIVES: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). STUDY DESIGN: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes...

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Identifiers

PMID: 25681199
DOI: 10.1016/j.jpeds.2014.12.069
PMCID: PMC4498659

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