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

Abstract 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) t...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis, Craig Johnson
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-05-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
PIK3CA
PI3K
PROS
Vascular malformation
Acesso em linha:https://doi.org/10.1186/s13023-022-02338-1
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados