Reduced penetrance in tuberous sclerosis

J Med Genet. 1985 Feb;22(1):29-31. doi: 10.1136/jmg.22.1.29.

Abstract

Two first cousins are reported with clinical evidence of tuberous sclerosis. The intervening brother and sister show no evidence of the disease on clinical and Wood's lamp examination, nor on CT scan.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aged
  • Brain / diagnostic imaging
  • Child
  • Female
  • Genetic Carrier Screening*
  • Genetic Counseling
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics*