Bannayan-Riley-Ruvalcaba syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Historical Perspective
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) was first discovered by Ruvalcaba, in 1980.[1]
- Bannayan-Riley-Ruvalcaba syndrome was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows:
- Ruvalcaba-Myhre syndrome
- Riley-Smith syndrome
- Bannayan-Zonana syndrome
- The overlap of symptoms between Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.[2]
- ↑ Lee SH, Ryoo E, Tchah H (March 2017). "Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report". Pediatr Gastroenterol Hepatol Nutr. 20 (1): 65–70. doi:10.5223/pghn.2017.20.1.65. PMC 5385310. PMID 28401059.
- ↑ Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.