Difference between revisions of "Carney-Stratakis syndrome"

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'''Carney-Stratakis syndrome''' is the combination of [[gastrointestinal stromal tumour]] and [[paraganglioma]].<ref>{{Cite journal  | last1 = Vaughan | first1 = P. | last2 = Pabla | first2 = L. | last3 = Hobin | first3 = D. | last4 = Barron | first4 = DJ. | last5 = Parikh | first5 = D. | title = Cardiac paraganglioma and gastrointestinal stromal tumor: a pediatric case of Carney-Stratakis syndrome. | journal = Ann Thorac Surg | volume = 92 | issue = 5 | pages = 1877-8 | month = Nov | year = 2011 | doi = 10.1016/j.athoracsur.2011.03.123 | PMID = 22051283 }}</ref>
'''Carney-Stratakis syndrome''' is the combination of [[gastrointestinal stromal tumour]] and [[paraganglioma]].<ref>{{Cite journal  | last1 = Vaughan | first1 = P. | last2 = Pabla | first2 = L. | last3 = Hobin | first3 = D. | last4 = Barron | first4 = DJ. | last5 = Parikh | first5 = D. | title = Cardiac paraganglioma and gastrointestinal stromal tumor: a pediatric case of Carney-Stratakis syndrome. | journal = Ann Thorac Surg | volume = 92 | issue = 5 | pages = 1877-8 | month = Nov | year = 2011 | doi = 10.1016/j.athoracsur.2011.03.123 | PMID = 22051283 }}</ref>


It is often associated with SDHB gene, SDHC gene or SDHD gene mutation.{{Ref OMIM|606864}}
It is often associated with SDHB gene, SDHC gene or SDHD gene mutation.{{OMIM|606864}}


==See also==
==See also==

Revision as of 15:07, 15 March 2016

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.Online 'Mendelian Inheritance in Man' (OMIM) 606864

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.