" /> Proteus-Like Syndrome - CISMeF





Preferred Label : Proteus-Like Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PTEN gene, encoding phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN. It is considered a type of PTEN-hamartoma syndrome. It has many features in common with Proteus syndrome, including hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi, but has not been associated with AKT1 gene mutation(s).;

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31/07/2025


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