Article
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2007
Au Kit Sing, Williams Aimee T, Roach E Steve, Batchelor Lori, Sparagana Steven P, Delgado Mauricio R, Wheless James W, Baumgartner James E, Roa Benjamin B, Wilson Carolyn M, Smith-Knuppel Teresa K, Cheung Min-Yuen C, Whittemore Vicky H, King Terri M, Northrup Hope
Abstract excerpt
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. We identified mutations in 72% (199/257) of de novo and 77% (53/68) of familial cases, with 17% of mutations in the TSC1 gene and 50% in the TSC2 gene. There were 4%...
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