Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

Clin Genet. 2012 Jun;81(6):602-4. doi: 10.1111/j.1399-0004.2011.01777.x. Epub 2011 Dec 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8 / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Neuronal Ceroid-Lipofuscinoses / genetics*

Substances

  • CLN8 protein, human
  • Membrane Proteins