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Article

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal of medical genetics - 1 Feb 2015

Spinelli Laura, Black Fiona M, Berg Jonathan N, Eickholt Britta J, Leslie Nicholas R

Abstract excerpt

BACKGROUND: Germline mutations in the phosphatase PTEN are associated with diverse human pathologies, including tumour susceptibility, developmental abnormalities and autism, but any genotype-phenotype relationships are poorly understood. METHODS: We have studied the functional consequences of seven PTEN mutations identified in patients diagnosed with autism and macrocephaly and five mutations from severe tumour...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25527629
DOI: 10.1136/jmedgenet-2014-102803
PMCID: PMC4316932

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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