PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report
These 2 cases illustrate <i>PIK3CA</i>-related phenotypes arising from somatic mosaic and germline contexts and document their clinical course over time. Larger, well-characterized cohorts and complementary functional assays are needed to refine genotype-phenotype relationships, inform clinical care, and evaluate targeted therapies.
Authors
- Pelin Özlem Şimşek‐Kiper (ORCID: https://orcid.org/0000-0001-7244-7766)
- Gülen Eda Ütine (ORCID: https://orcid.org/0000-0001-6577-5542)
- Duran Yıldız (ORCID: https://orcid.org/0000-0002-0131-0399)
- Gizem Ürel Demir (ORCID: https://orcid.org/0000-0002-9928-3236)
- Nazli Busra Acikgoz (ORCID: https://orcid.org/0000-0002-0843-5370)
Institutions
- Hacettepe University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1159/000549757
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00