Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI

Graefes Arch Clin Exp Ophthalmol. 2015 Mar;253(3):491-2. doi: 10.1007/s00417-014-2828-7. Epub 2014 Oct 22.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abducens Nerve / abnormalities*
  • Blepharoptosis / diagnosis
  • Blepharoptosis / genetics
  • Child, Preschool
  • Chimerin 1 / genetics*
  • DNA Mutational Analysis
  • Duane Retraction Syndrome / diagnosis
  • Duane Retraction Syndrome / genetics*
  • Exotropia / diagnosis
  • Exotropia / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Polymerase Chain Reaction
  • Trochlear Nerve / abnormalities*
  • Trochlear Nerve Diseases / congenital*
  • Trochlear Nerve Diseases / diagnosis
  • Trochlear Nerve Diseases / genetics

Substances

  • Chimerin 1

Supplementary concepts

  • Fourth Cranial Nerve Palsy, Familial Congenital