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Article

APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case.

Diseases of the colon and rectum - 1 Aug 2009

Filipe Bruno, Albuquerque Cristina, Bik Elsa, Lage Pedro, Rodrigues Paula, Vossen Rolf, Tops Carli, Nobre Leitão Carlos

Abstract excerpt

We report a case of somatic APC mosaicism in an person with a clinical diagnosis of Gardner syndrome with features of attenuated polyposis coli and with an uninformative family history. In initial screening for APC mutations, the germline mutation E1573X was detected in a lower proportion than that predicted by a heterozygous mutation indicating the presence of somatic mosaicism. Pyrosequencing confirmed this...

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PMID: 19617769
DOI: 10.1007/DCR.0b013e3181ab810f

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APC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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