Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is...

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Detalles Bibliográficos
Autores principales: Lee, Sun Hwa, Ryoo, Eell, Tchah, Hann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385310/
https://www.ncbi.nlm.nih.gov/pubmed/28401059
http://dx.doi.org/10.5223/pghn.2017.20.1.65

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385310/
https://www.ncbi.nlm.nih.gov/pubmed/28401059
http://dx.doi.org/10.5223/pghn.2017.20.1.65

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