Article
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Oncogene - 18 Sept 2008
Orloff M S, Eng C
Abstract excerpt
Germline PTEN (Phosphatase and TENsin homologue deleted on chromosome TEN) mutations predispose to phenotypically diverse disorders that share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome, collectively classified as PTEN hamartoma tumour syndrome (PHTS). The meticulous acquisition and documentation of PHTS phenotypic data at...
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