Associated Papers
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.
Tibarewal P et al.
Disease Models & Mechanisms, 2026
41215730 (PubMed )
Supplement: dmm-19-052527-TableS1.xlsx › Table_S1
Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease.
Torices L et al.
European Journal of Human Genetics : Ejhg, 2023
Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.
Buccoliero AM et al.
Genes, 2022
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L et al.
Orphanet Journal of Rare Diseases, 2022
35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf
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