Carney-Stratakis syndrome

Carney-Stratakis syndrome is the combination of gastrointestinal stromal tumour and paraganglioma.[1]

It is often associated with SDHB gene, SDHC gene or SDHD gene mutation.[2]

See also

References

  1. Vaughan, P.; Pabla, L.; Hobin, D.; Barron, DJ.; Parikh, D. (Nov 2011). "Cardiac paraganglioma and gastrointestinal stromal tumor: a pediatric case of Carney-Stratakis syndrome.". Ann Thorac Surg 92 (5): 1877-8. doi:10.1016/j.athoracsur.2011.03.123. PMID 22051283.
  2. Online 'Mendelian Inheritance in Man' (OMIM) 606864