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Difference between revisions of "Tuberous sclerosis"
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*Autosomal dominant with variable penetrance.<ref name=pmid25093518/> | *Autosomal dominant with variable penetrance.<ref name=pmid25093518/> | ||
*Majority (60-70%) are ''de novo'' mutations.<ref name=pmid25093518/> | *Majority (60-70%) are ''de novo'' mutations.<ref name=pmid25093518/> | ||
*May be treated with a mTOR inhibitor,<ref name=pmid23413089>{{Cite journal | last1 = Pirson | first1 = Y. | title = Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. | journal = Nephrol Dial Transplant | volume = 28 | issue = 7 | pages = 1680-5 | month = Jul | year = 2013 | doi = 10.1093/ndt/gft009 | PMID = 23413089 }}</ref> | *May be treated with a mTOR inhibitor, e.g. [[everolimus]].<ref name=pmid23413089>{{Cite journal | last1 = Pirson | first1 = Y. | title = Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. | journal = Nephrol Dial Transplant | volume = 28 | issue = 7 | pages = 1680-5 | month = Jul | year = 2013 | doi = 10.1093/ndt/gft009 | PMID = 23413089 }}</ref> | ||
==Associations== | ==Associations== | ||