A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

J Med Genet. 2011 Sep;48(9):593-6. doi: 10.1136/jmedgenet-2011-100288.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arnold-Chiari Malformation / etiology
  • Arnold-Chiari Malformation / genetics*
  • Exome*
  • Eye / pathology*
  • Genome, Human
  • Hearing Loss / etiology
  • Hearing Loss / genetics*
  • Humans
  • Infant
  • Leber Congenital Amaurosis / etiology
  • Leber Congenital Amaurosis / genetics*
  • Mutation*
  • Peroxisomal Disorders / complications
  • Peroxisomal Disorders / genetics*
  • Phenotype
  • Sequence Analysis, DNA / methods

Supplementary concepts

  • Peroxisome biogenesis disorders