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Difference between revisions of "Tuberous sclerosis"
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**Some evidence to suggest it is more often implicated in malignant tumours (than TSC1).<ref name=pmid9827727>{{cite journal |author=Al-Saleem T, Wessner LL, Scheithauer BW, ''et al.'' |title=Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex |journal=Cancer |volume=83 |issue=10 |pages=2208–16 |year=1998 |month=November |pmid=9827727 |doi= |url=}}</ref> | **Some evidence to suggest it is more often implicated in malignant tumours (than TSC1).<ref name=pmid9827727>{{cite journal |author=Al-Saleem T, Wessner LL, Scheithauer BW, ''et al.'' |title=Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex |journal=Cancer |volume=83 |issue=10 |pages=2208–16 |year=1998 |month=November |pmid=9827727 |doi= |url=}}</ref> | ||
**TSC2 mutations have a higher prevalence (than TSC1 mutations) and are considered more aggressive.<ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref> | **TSC2 mutations have a higher prevalence (than TSC1 mutations) and are considered more aggressive.<ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref> | ||
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*The proteins (hamartin and tuberin) are expressed in a wide variety of tissues.<ref name=pmid11266527>{{Cite journal | last1 = Johnson | first1 = MW. | last2 = Kerfoot | first2 = C. | last3 = Bushnell | first3 = T. | last4 = Li | first4 = M. | last5 = Vinters | first5 = HV. | title = Hamartin and tuberin expression in human tissues. | journal = Mod Pathol | volume = 14 | issue = 3 | pages = 202-10 | month = Mar | year = 2001 | doi = 10.1038/modpathol.3880286 | PMID = 11266527 }}</ref> | |||
==Incidence== | ==Incidence== | ||