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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2025
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