Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

BACKGROUND: Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somat...

Descripción completa

Detalles Bibliográficos
Autores principales: Maguolo, Alice, Antoniazzi, Franco, Spano, Alice, Fiorini, Elena, Gaudino, Rossella, Mauro, Margherita, Cantalupo, Gaetano, Biban, Paolo, Maitz, Silvia, Cavarzere, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146629/
https://www.ncbi.nlm.nih.gov/pubmed/30231930
http://dx.doi.org/10.1186/s13052-018-0568-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146629/
https://www.ncbi.nlm.nih.gov/pubmed/30231930
http://dx.doi.org/10.1186/s13052-018-0568-8

Ejemplares similares