Intrafamilial variability in fucosidosis

Clin Genet. 1988 Jul;34(1):7-14. doi: 10.1111/j.1399-0004.1988.tb02608.x.

Abstract

Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or "modifying genes" different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Fucosidosis / genetics*
  • Genes*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • alpha-L-Fucosidase / genetics*

Substances

  • alpha-L-Fucosidase