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...

Descripción completa

Detalles Bibliográficos
Autores principales: Salinas, Ivania, Perez Del Nogal, Genesis, Herrera, Alejandro, Rojas, Pedro, Shah, Kejal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
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

Internet

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

Ejemplares similares