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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Bibliografiske detaljer
Main Authors: Paparo, Lorella, Rossi, Giovanni Battista, Delrio, Paolo, Rega, Daniela, Duraturo, Francesca, Liccardo, Raffaella, Debellis, Mario, Izzo, Paola, De Rosa, Marina
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3737036/
https://ncbi.nlm.nih.gov/pubmed/23886400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1897-4287-11-8
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