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Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.


ABSTRACT: We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

SUBMITTER: Longy M 

PROVIDER: S-EPMC1051478 | BioStudies | 1998-01-01T00:00:00Z

SECONDARY ACCESSION(S): 153480

REPOSITORIES: biostudies

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