PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper...

Descripción completa

Detalles Bibliográficos
Autores principales: Krishnamurthy, Kritika, Edema, Ukuemi, Ustun, Berrin, Villanueva-Siles, Esperanza, Koehler, Steven M, Naeem, Rizwan, Wang, Yanhua, Goldstein, Doctor Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576994/
https://www.ncbi.nlm.nih.gov/pubmed/37846420
http://dx.doi.org/10.1093/jscr/rjad549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576994/
https://www.ncbi.nlm.nih.gov/pubmed/37846420
http://dx.doi.org/10.1093/jscr/rjad549

Ejemplares similares