A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

Ophthalmic Genet. May-Jun 2017;38(3):284-285. doi: 10.1080/13816810.2016.1188123. Epub 2016 Jun 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / diagnostic imaging
  • Codon, Terminator / genetics*
  • Consanguinity
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mutation*
  • Ophthalmoplegia, Chronic Progressive External / diagnostic imaging
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / surgery
  • Receptors, Cell Surface
  • Receptors, Immunologic / genetics*
  • Rib Cage / diagnostic imaging
  • Scoliosis / diagnostic imaging
  • Scoliosis / genetics*
  • Scoliosis / surgery
  • Young Adult

Substances

  • Codon, Terminator
  • ROBO3 protein, human
  • Receptors, Cell Surface
  • Receptors, Immunologic

Supplementary concepts

  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis