Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other af...

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Detalles Bibliográficos
Autores principales: Paparo, Lorella, Rossi, Giovanni Battista, Delrio, Paolo, Rega, Daniela, Duraturo, Francesca, Liccardo, Raffaella, Debellis, Mario, Izzo, Paola, De Rosa, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737036/
https://www.ncbi.nlm.nih.gov/pubmed/23886400
http://dx.doi.org/10.1186/1897-4287-11-8

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