Ontology highlight
ABSTRACT:
SUBMITTER: Peiretti V
PROVIDER: S-EPMC3890226 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Peiretti Valentina V Mussa Alessandro A Feyles Francesca F Tuli Gerdi G Santanera Arianna A Molinatto Cristina C Ferrero Giovanni Battista GB Corrias Andrea A
Journal of clinical research in pediatric endocrinology 20130101 4
Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN), and up to 30% of ...[more]