The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone.

"This is clearly the most authoritative and contemporary statement of current knowledge yet published." from the Foreword by H. Sarnat Tuberous sclerosis is the prototype of a category of malformations uniquely characterized by disturbances ...

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Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver.

... TSC2 NsC2 RaC2 NsC2 TSC2 NsC2 TsB2 LgB TSC2 Mx NsB2 ( YOB MrD AIC2 MrD NsC Cw NsC NsC2 TSC2 NsB2 LgB TtC3 NsC2 TSC2 TsC2 TsB2 NSB2 TSB SeB SeB NSC2 TSB2 TSB2 SeB N TsC2 TSC2 NsC2 MrD MrD TSB2 CeB2 TSB WOB TsC2 TSB2 NsC2 MrD WOB ( ESB2 ...

Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Tuberous Sclerosis in a concise format.

... TSC2 ω TfB CnA TfA Chickasaw Lake TfB DpA Gr Gr TsC2 CnA Op TfA TfB TwB TfA w w TfB TfA TfB TfB DPA KTSC2 Gr WaB Big TfB TfB CaC2 ω TsC2 TfB TsC2 TfA NoB TsC2 TsC2 CnA OPI TsC2 TfA TsC2 CaC2 TfB TfA Op 17 TsC2 ChA TsC2 TsC2 Op Op CaB2 ...

... TSC2 mutations TSC1 TSC2 Large deletions/ rearrangements 3 2% 69 16% Insertions 29 17% 34 8% Deletions 58 34% 97 23% Nonsense 67 39% 86 20% Point splicing 13 7% 52 12% Missense 2 1% 84 20% Total 172 422 Note: derived from a literature ...

... TSC2 TSC2 HaC2 Ht Hm82 TSC2 ( Joins sheet 38 ) Rb Ca CREEK RO 47 N ImD Eg ITVD Hu CaB2 ArB2 CaA TSC2 ArB2 ArA Etc2 ImD TvD ImE a TSC2 Lp HnC2 TvD TIB3 CEMETERY TSC2 TSC2 StD2 StC2 StB2 Stc2 SrD3 StC2 ArC2 HeC2 ArB2 CaB2 TVD Toom CaA ArA ...