Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach

BACKGROUND: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary...

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Detalles Bibliográficos
Autores principales: Rodríguez-Laguna, Lara, Davis, Kristen, Finger, Mellenee, Aubel, Dawn, Vlamis, Robin, Johnson, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077929/
https://www.ncbi.nlm.nih.gov/pubmed/35526022
http://dx.doi.org/10.1186/s13023-022-02338-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077929/
https://www.ncbi.nlm.nih.gov/pubmed/35526022
http://dx.doi.org/10.1186/s13023-022-02338-1

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