Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

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...

Topics

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• Genetic Heterogeneity
• Genomics
• Germ-Line Mutation
• Hamartoma Syndrome, Multiple
• Mice, Knockout
• Models, Biological