Bannayan-Zonana syndrome, Ruvalcaba-Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome

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Epidemiology

rare

Pathology

  • hamartomatous disorder

Genetics

  • associated with defects in PTEN

Clinical manifestations

Laboratory

Complications

More general terms

Additional terms

References

  1. Marsh DJ et al, Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet. 1997 Aug;16(4):333-4. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9241266
  2. Wikipedia: Bannayan-Riley-Ruvalcaba syndrome http://en.wikipedia.org/wiki/Bannayan-Riley-Ruvalcaba_syndrome
  3. Gretzula JC, Hevia O, Schachner LS et al Ruvalcaba-Myhre-Smith syndrome Pediatr Dermatol. 1988 Feb;5(1):28-32. PMID: https://www.ncbi.nlm.nih.gov/pubmed/3380760
  4. Genetics Home Reference: Bannayan-Riley-Ruvalcaba syndrome http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
  5. Bannayan-Riley-Ruvalcaba syndrome Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome

Patient information

Bannayan Zonana syndrome patient information

Database