Article
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Neurogenetics - 1 Aug 2018
Caylor R C, Grote L, Thiffault I, Farrow E G, Willig L, Soden S, Amudhavalli S M, Nopper A J, Horii K A, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders C J
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental...
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