Proteus syndrome caused by novel somatic AKT1 duplication

Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impac...

Descripción completa

Detalles Bibliográficos
Autores principales: AlAnzi, Talal, Al-mashharawi, Eman, Alhashem, Amal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989324/
https://www.ncbi.nlm.nih.gov/pubmed/33399177
http://dx.doi.org/10.15537/smj.2021.1.25618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989324/
https://www.ncbi.nlm.nih.gov/pubmed/33399177
http://dx.doi.org/10.15537/smj.2021.1.25618

Ejemplares similares