Article
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
American journal of human genetics - 1 Aug 1996
Henske E P, Scheithauer B W, Short M P, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh C T, Kwiatkowski D J
Abstract excerpt
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous lesions. Although hamartomas can occur in almost any organ, they are most common in the brain, kidney, heart, and skin. Allelic loss or loss of heterozygosity (LOH) in TSC lesions has previously been reported on chromosomes 16p13 and 9q34, the locations of the TSC2 and TSC1 genes,...
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