Supplementary Material for: PIK3CA-related phenotypes due to germline and somatic mosaic variants: A two-case report

Objective: Somatic mosaic activating PIK3CA variants are a well-established cause of segmental overgrowth phenotypes, whereas germline PIK3CA variants are rare and clinically heterogeneous. We report two unrelated patients—one with a somatic mosaic and one with a de novo germline PIK3CA variant—with...

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Príomhchruthaitheoir: figshare admin karger (2628495) (author)
Rannpháirtithe: Acikgoz N.B. (22680110) (author), Yildiz D. (22680113) (author), Urel-Demir G. (22680116) (author), Utine G.E. (10103125) (author), Simsek-Kiper P.O. (14650079) (author)
Foilsithe / Cruthaithe: 2025
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