A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun...

Source: Orphanet Journal of Rare Diseases - July 8, 2021 Category: Internal Medicine Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil Tags: Review Source Type: research