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...
Saved in:
| Hovedforfatter: | |
|---|---|
| Andre forfattere: | , , , , |
| Udgivet: |
2025
|
| Fag: | |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|