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Article

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.

Journal of medical genetics - 1 May 1999

Celebi J T, Tsou H C, Chen F F, Zhang H, Ping X L, Lebwohl M G, Kezis J, Peacocke M

Abstract excerpt

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders,...

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Topics

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Share to Craniofacial Abnormalities
Share to Germ-Line Mutation
Share to Hamartoma Syndrome, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phosphoric Monoester Hydrolases

Share to PTEN Phosphohydrolase

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Source

Open in PubMed Open full text

Identifiers

PMID: 10353779
PMCID: PMC1734369

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10353779-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.PMID 10353779Read ↗

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