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Article

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Clinical genetics - 1 Feb 2009

Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V

Abstract excerpt

Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with macrocephaly. To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18759867
DOI: 10.1111/j.1399-0004.2008.01074.x

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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