Published in Gene Therapy Weekly, September 4th, 2008
"Facets of this syndrome were originally described separately by Riley and Smith (1960), Bannayan and Zonana (1971), and Ruvalcaba, Myher, and Smith (1980).(1) In 1990, Cohen recommended that these be combined into a single syndrome characterized by childhood macrocephaly, penile macules, and polyposis of the colon, which he termed BRRS.(2) Bannayan-Riley-Ruvalcaba syndrome results from a germ line mutation in the phosphatase and tensin homologue (PTEN) tumor suppressor gene on chromosome 10q23; a similar mutation affects patients...
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