Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/AKT/mTOR pathway or of chromosome band 11p15.5 imprinted regi...

Descripción completa

Detalles Bibliográficos
Autores principales: Mussa, Alessandro, Turchiano, Antonella, Cardaropoli, Simona, Coppo, Paola, Pantaleo, Antonino, Bagnulo, Rosanna, Ranieri, Carlotta, Iacoviello, Matteo, Garganese, Antonella, Stella, Alessandro, Vallero, Stefano Gabriele, Bertin, Daniele, Santoro, Federica, Carli, Diana, Ferrero, Giovanni Battista, Resta, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9542063/
https://www.ncbi.nlm.nih.gov/pubmed/35778969
http://dx.doi.org/10.1002/gcc.23086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9542063/
https://www.ncbi.nlm.nih.gov/pubmed/35778969
http://dx.doi.org/10.1002/gcc.23086

Ejemplares similares