PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by
somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is …

Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is
associated with a category of overgrowth syndromes that are defined as PIK3CA-related …

Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders,
depending on the developmental timing of the mutation and tissues involved. These …

Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …

Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …

Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical
entities, which share the same pathogenetic mechanism. These conditions are caused by …

PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes,
collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of …