Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth Spectrum disorders.
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DOI: 10.1093/hmg/ddac296
Abstract: Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphatidylinositol 3-kinase (PI3K), produce constitutive PI3K activation which causes PIK3CA-related overgrowth spectrum (PROS) disorders. To date, fewer than 20 patients have been described with… read more here.
Keywords: pi3k; germline pik3ca; pik3ca related; pik3ca variants ... See more keywords