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...
Na minha lista:
| Autor principal: | |
|---|---|
| Outros Autores: | , , , , |
| Publicado em: |
2025
|
| Assuntos: | |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|