Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

BACKGROUND: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION...

Descripción completa

Detalles Bibliográficos
Autores principales: Bellantoni, G., Guerrini, F., Del Maestro, M., Galzio, R., Luzzi, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277249/
https://www.ncbi.nlm.nih.gov/pubmed/30555950
http://dx.doi.org/10.1016/j.ensci.2018.11.021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277249/
https://www.ncbi.nlm.nih.gov/pubmed/30555950
http://dx.doi.org/10.1016/j.ensci.2018.11.021

Ejemplares similares