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Article

Cerebellar phenotypes in germline PTEN mutation carriers.

Neuropathology and applied neurobiology - 1 Apr 2024

Gambini Donatella, Ferrero Stefano, Bulfamante Gaetano, Pisani Luigi, Corbo Massimo, Kuhn Elisabetta

Abstract excerpt

PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38504418
DOI: 10.1111/nan.12970

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