Tuberous sclerosis complex.
Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly identical phenotypes, and great progress has been made towards understanding how each of these genes functions. The recognition of tuberous sclerosis complex improved with revised diagnostic criteria, and the management of many of the complications of tuberous sclerosis complex has improved.
Sparagana
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Texas Scottish Rite Hospital for Children and University of Texas Southwestern Medical School, Dallas 75219, USA. esroach@popi.net
Roach
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D004827:Epilepsy / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*