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Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene.
  1. A R Rushton,
  2. B A Shaywitz

    Abstract

    A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dominant gene modifying the expression of the gene for tuberous sclerosis.

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