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Article

Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited <i>PTEN</i> mutation

14 Mar 2006

Abstract excerpt

A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.

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Identifiers

PMID: 16704655
DOI: 10.1111/j.1365-2133.2006.07196.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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