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...
Guardado en:
| Autor principal: | |
|---|---|
| Otros Autores: | , , , , |
| Publicado: |
2025
|
| Materias: | |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|