" /> PTEN Hamartoma Tumor Syndrome - CISMeF





Preferred Label : PTEN Hamartoma Tumor Syndrome;

NCIt synonyms : PHTS;

NCIt definition : A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma.;

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29/07/2025


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