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Article

Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.

Journal of the American Academy of Dermatology - 1 Feb 2001

Wanner M, Celebi J T, Peacocke M

Abstract excerpt

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two inherited hamartoma syndromes characterized by distinct phenotypic features. Mutations in the PTEN gene have been identified in patients with CS and BZS, suggesting the presence of a common genetic basis. We describe a single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) in which we have identified a novel...

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Source

Identifiers

PMID: 11174374
DOI: 10.1067/mjd.2001.110390

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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Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.PMID 11174374Read ↗

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Semantic proximity Read ↗

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive ReviewSemantic proximity Read ↗

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.Semantic proximity Read ↗

PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.Semantic proximity Read ↗

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