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Article

Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report.

Anais brasileiros de dermatologia - 1 Jan 2000

Gontijo Gabriela Maria Abreu, Pinto Clóvis Antonio Lopes, Rogatto Silvia Regina, Cunha Isabela Werneck da, Aguiar Samuel, Alves Célia Antônia Xavier de Moraes

Abstract excerpt

Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24474112
DOI: 10.1590/abd1806-4841.20132730
PMCID: PMC3900354

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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