Other Names for this Disease
- Riley-Smith syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Ruvalcaba -Myhre-Smith syndrome
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BRRS is caused by specific mutations in the PTEN gene. The PTEN gene provides instructions for making a protein that is found in almost all tissues in the human body. The protein acts as a tumor suppressor, which means that it plays a role in preventing cells from growing and dividing too rapidly or in an uncontrolled way.
Last updated: 3/18/2013
- PTEN. Genetics Home Reference. September 2012; http://ghr.nlm.nih.gov/gene/PTEN. Accessed 3/18/2013.