You are here

Article Text

Article menu
Download PDFPDF
Research Article
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.

    https://doi.org/10.1136/jmg.16.1.32

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.