Article
[Characteristics of tuberous sclerosis in children].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2010
Riquet A, Cuisset J-M, Cuvellier J-C, Joriot S, Petit F, Vallée L
Abstract excerpt
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell...
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