Cargando…
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
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 ni...
Autores principales: | Gontijo, Gabriela Maria Abreu, Pinto, Clóvis Antonio Lopes, Rogatto, Silvia Regina, da Cunha, Isabela Werneck, Aguiar Junior, Samuel, Alves, Célia Antônia Xavier de Moraes |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/ https://www.ncbi.nlm.nih.gov/pubmed/24474112 http://dx.doi.org/10.1590/abd1806-4841.20132730 |
Ejemplares similares
-
Bannayan Ruvalcaba Riley Syndrome
por: Sagi, Sashidhar V., et al.
Publicado: (2014) -
Thyroid Involvement in Two Patients with Bannayan-Riley-Ruvalcaba Syndrome
por: Peiretti, Valentina, et al.
Publicado: (2013) -
Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
por: Yehia, Lamis, et al.
Publicado: (2017) -
Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes
por: Salinas, Ivania, et al.
Publicado: (2021) -
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report
por: Lee, Sun Hwa, et al.
Publicado: (2017)