Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

Clin Genet. 2010 May;77(5):499-502. doi: 10.1111/j.1399-0004.2010.01411.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abducens Nerve / pathology
  • Arnold-Chiari Malformation / complications*
  • Arnold-Chiari Malformation / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5 / genetics*
  • DNA Copy Number Variations / genetics
  • Duane Retraction Syndrome / complications*
  • Duane Retraction Syndrome / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Young Adult