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Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder caused by germline mutations in the phosphatase and tensin homolog (PTEN) gene. Clinical manifestations arise early during childhood and include multiple lipomas, hamartomatous intestinal polyps, macrocephaly, developmental delay, a...
Autores principales: | Salinas, Ivania, Perez Del Nogal, Genesis, Herrera, Alejandro, Rojas, Pedro, Shah, Kejal |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570617/ https://www.ncbi.nlm.nih.gov/pubmed/34754688 http://dx.doi.org/10.7759/cureus.18543 |
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