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Article

PTEN mosaicism with features of Cowden syndrome.

Clinical genetics - 1 Dec 2013

Gammon A, Jasperson K, Pilarski R, Prior Tw, Kuwada S

Abstract excerpt

We present the first known case of somatic PTEN mosaicism causing features of Cowden syndrome (CS) and inheritance in the subsequent generation. A 20-year-old woman presented for genetics evaluation with multiple ganglioneuromas of the colon. On examination, she was found to have a thyroid goiter, macrocephaly, and tongue papules, all suggestive of CS. However, her reported family history was not suspicious for...

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Source

Identifiers

PMID: 23240978
DOI: 10.1111/cge.12078

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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