[PIK3CA-related overgrowth spectrum (PROS): new insight in known diseases].

Abstract excerpt

The overgrowth syndromes related to phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) are grouped under the concept of PROS (PIK3CA-related overgrowth spectrum). It is a heterogeneous group of diseases, considered a rare disease (ORPHA: 530313), which combines the presence of vascular malformations with segmental overgrowth of some parts of the body. All these diseases are caused by mutations in the gene that...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Class I Phosphatidylinositol 3-Kinases
• Share to Mutation
• Share to Phenotype