Article
Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spectrum (PROS).
Annals of vascular surgery - 1 Jan 2023
Triana Paloma, Sarmiento María Del Carmen, Rodriguez-Laguna Lara, Martinez-Glez Victor, Lopez-Gutierrez Juan Carlos
Abstract excerpt
BACKGROUND: PIK3CA-related overgrowth syndrome (PROS) include a heterogeneous group of disorders characterized by segmental overgrowth secondary to somatic mosaic activating variants in PIK3CA. Segmental undergrowth is more uncommon and has been less studied but pathogenic variants in PIK3CA have also been found. With this in mind, we have noticed a group of patients with PROS that present an undergrowth...
Topics
- Female
- Humans
- Male
- Class I Phosphatidylinositol 3-Kinases
- Growth Disorders
- Mutation
- Phenotype
- Toes
- Treatment Outcome
- Adolescent
