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Article

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Journal of medical genetics - 1 Aug 2011

Pilarski Robert, Stephens Julie A, Noss Ryan, Fisher James L, Prior Thomas W

Abstract excerpt

BACKGROUND: Cowden syndrome (CS) is associated with benign hamartomatous lesions and risks for thyroid, breast and endometrial cancers. Bannayan-Riley-Ruvalcaba syndrome is an allelic disorder characterised by macrocephaly, intestinal polyps, lipomas, and pigmented penile macules. Diagnostic criteria for CS are based on the presence of a range of clinical features. However, prior data on the component clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21659347
DOI: 10.1136/jmg.2011.088807

Genes

PTEN

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