A somatic splice ‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

ConclusionsThis is the first intronic SNV in a canonical splice site within iSH2 described, highlighting the importance of iSH2 in the regulation of the PI3K/AKT pathway and its involvement in the development of vascular overgrowth and antibody deficiency.

Source: Molecular Genetics & Genomic Medicine - August 29, 2023 Category: Genetics & Stem Cells Authors: Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee Tags: CLINICAL REPORT Source Type: research